Paediatrics - endocrine, renal and urology Flashcards
what causes T1DM
when the pancreas stops to produce insulin, resulting in the body not being able to uptake glucose into cells
what cells in the pancreas produces insulin
beta cells in the islets of langerhans
what is glucagon
it is a hormone that increases blood sugar levels. Is is released in response to low blood sugar and stress, and increases blood glucose levels
when does ketogenesis occur
when there is an insufficient supply of glucose and glycogen stores are exhausted the liver converts fatty acids to ketones
how does type 1 DM present
classical triad:
polydipsia
polyuria
weight loss
less typical presentations are secondary enuresis and recurrent infections
about 25-50 % of children present in diabetic ketoacidosis
how is a new diagnosis of T1DM established
Bloods - FBC, renal profile, glucose monitoring
blood cultures
HbA1C
thyroid function tests and TPO antibodies
anti- TTG
insulin antibodies, anti-GAD and islet cell antibodies
what is the general long term management of T1DM
subcut insulin regimes
monitoring dietary carbohydrate intake
monitoring blood sugar levels on waking, at each meal and before bed
monitoring for and managing complications
what insulin regimes are normally given in T1DM
background long acting and short acting insulin (injected 30mins pre meal) - basal bolus regime
what can injecting insulin into the same spot cause
lipodystrophy where the sub cut fat hardens and prevents normal absorption of insulin when further doses are injected into this area
what are two types of insulin pump
tethered pump
patch pump
what is an insulin pump
it is a small device that continually infuses insulin at different rates to control blood sugar levels.
the pump pushes insulin through a cannula which is replaced every 2-3 days
how old must a child be in order to qualify for an insulin pump
over 12
what are the advantages of using an insulin pump
better blood sugar control
more flexibility with eating
less injections
what are disadvantages of using an insulin pump
difficulties learning how to use a pump
having it attached at all times
blockages in the infusion set
small risk of infection
what is a tethered pump
these are devices with replaceable infusion sets and insulin
they usually attach to patients belt or round waist which connects to the cannula
the controls for the infusion are on the pump
what is a patch pump
this sits directly on the skin without any visible tubes
when they run out of insulin the whole patch is disposed of and new pump is attaches
normally controlled by separate remote
what are short term complications of T1DM
Hypoglycaemia
hyperglycaemia and DKA
what are treatment options for severe hypoglycaemia
IV dextrose and IM glucagon
what are the macrovascular complications of T1DM
coronary artery disease
peripheral ischaemia - diabetic foot
stroke
hypertension
what are the microvascular complications of T1DM
peripheral neuropathy
retinopathy
kidney disease - glomerulosclerosis
what monitoring is done in those with T1DM
HbA1c - glycated haemoglobin measured every 3-6 months
capillary blood glucose
flash glucose monitoring - sensor on the skin that measures glucose in the interstitial fluid
what is the pathophysiology of diabetic ketoacidosis
when cells in the body have no fuel (glucose) they initiate the process of ketogenesis.
over time ketone acids use up bicarbonate (produced by kidneys) and the blood becomes acidic
why do patients in DKA get dehydrated
hyperglycaemia overwhelms the kidneys and glucose starts being filtered into the urine
the glucose in the urine draws water out with it
this causes the patient to urinate a lot
this stimulates excessive drinking
why does DKA cause potassium imbalance
insulin normally drives potassium into the cells
without insulin serum potassium can be high/normal due to compensation by the kidneys where as the total body potassium is low as no potassium is stored in cells
when treatment with insulin starts the patient may develop a severe hypokalaemia
what can children in DKA develop
cerebral oedema
what causes cerebral oedema in DKA
dehydration and high blood sugar concentration cause water to move from the intracellular to extracellular space in the brain
this causes brain cells to shrink and become dehydrated
rapid correction of dehydration and hyperglycemia with fluids and insulin causes a rapid shift in water in the brain and can cause the brain to swell and become oedematous
what are signs of cerebral oedema in those with DKA
headaches
altered behaviour
bradycardia
changes to consciousness
what is the treatment for cerebral oedema in DKA
slowing IV fluids
IV mannitol
IV hypertonic saline
how does DKA present
polyuria
polydipsia
nausea and vomiting
weight loss
acetone smell to their breath
dehydration and hypotension
antlered consciousness
symptoms of underlying trigger
how is DKA diagnosed
hyperglycaemia - blood glucose >11mmol/l
ketosis- blood ketones > 3mmol/l
acidosis - pH <7.3
what is the principles of DKA management in children
- correct dehydration evenly over 48 hours
- give a fixed rate insulin infusion
need to prevent hypoglycaemia by adding IV
dextrose once glucose falls below 14mmol/l
add potassium to IV fluids and monitor serum potassium closely
what is adrenal insufficiency
it is where the adrenal glands do not produce enough steroid hormones particularly cortisol and aldosterone
what is addisons disease
primary adrenal insufficiency
this is when the adrenal glands have been damaged resulting in reduced secretion of cortisol and aldosterone
what causes secondary adrenal insufficiency
inadequate ACTH stimulating the adrenal glands resulting in low cortisol being released
- loss or damage to the pituitary gland
what causes tertiary adrenal insufficiency
result of inadequate CRH by the hypothalamus
what is a common cause of tertiary adrenal insufficiency
long term oral steroids (more than three weeks) causing suppression of the hypothalamus
what are features of adrenal insufficiency in babies
lethargy
vomiting
poor feeding
hypoglycaemia
jaundice
failure to thrive
what are features of adrenal insufficiency in older children
nausea and vomiting
poor weight gain or weight loss
reduced appetite
abdominal pain
muscle weakness or cramps
developmental delay or poor academic performance
bronze hyperpigmentation to skin in addisons caused by high ACTH levels
what investigations are done in a child with suspected adrenal insufficiency
bloods - U+E, blood glucose, FBC
cortisol, ACTH, aldosterone and renin levels
Short synacthen test
what is seen on bloods in primary adrenal failure
low cortisol
high ACTH
low aldosterone
high renin
what is seen on bloods in secondary adrenal insufficiency
low cortisol
low ACHT
normal aldosterone
normal renin
what is the Short Synacthen test
used to confirm adrenal insufficiency
- give patient synacthen (synthetic ACTH)
- blood cortisol is measures at baseline, 30 and 60 minutes after administration
- failure of cortisol to rise indicates primary adrenal insufficiency
how is adrenal insufficiency managed
replacement of steroids
- hydrocortisone for cortisol
- fludrocortisone for aldosterone
monitor patient closely for: growth and development, blood pressure, U+E, glucose, bone profile and vitamin D
what needs to happen during acute illness if someone is on steroids
their dose of steroid needs to be increased and given more regularly until the illness has resolved
blood sugar needs to be monitored closely
with D+V they need an IM injection of steroid at home and likely need IV steroids
what is an addisonian crisis
this is an acute presentation of severe addisons where the absence of steroid hormones result in a life threatening condition
how can patients present in addisonian crisis
reduced consciousness
hypotension
hypoglycaemia, hyponatraemia, hyperlalaemia
what is the management of an Addisonian crisis
intensive monitoring
parenteral steroids - IV hydrocortisone
IV fluid resuscitation
correct hypoglycaemia
what is congenital adrenal hyperplasia
it is a condition caused by congenital deficiency of the 21 hydroxylase enzyme causing underproduction of cortisol and aldosterone and an over production of androgens from birth
what is the inheritance pattern of congenital adrenal hyperplasia
autosomal recessive
a deficiency in what enzyme causes congenital adrenal hyperplasia
21 hydroxylase
- small number of cases caused by deficiency of 11 beta hydroxylase
what is the pathophysiology of congenital adrenal hyperplasia
21 hydroxylase in an enzyme required for converting progesterone into aldosterone and cortisol
in CAH there is a defect in the 21 hydroxylase enzyme meaning there is excess progesterone which is converted into testosterone instead
what is the presentation of severe congenital adrenal hyperplasia
- female patients with CAH present with ambiguous genitalia and enlarged clitoris
- babies with severe CAH can present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia
how do patients with mild congenital adrenal hyperplasia present
present during childhood or after puberty
Female patients - tall for age, facial hair, absent periods, deep voice, early puberty
male patients - tall for their age, deep voice, large penis, small testes, early puberty
what is the management for congenital adrenal hyperplasia
cortisol replacements - hydrocortisone
aldosterone replacements - fludrocortisone
female patients with ‘virilised’ genitals may require corrective surgery
where is growth hormone produced
by the anterior pituitary gland
what is growth hormone responsible for
it is responsible for stimulating cell reproduction and the growth of organs, muscles, bones and increase height
what does growth hormone stimulate the release of
the release of insulin like growth factor 1 by the liver
what is congenital growth hormone deficiency
the disruption to the growth hormone axis at the hypothalamus or the pituitary gland
what can cause congenital growth hormone deficiency
genetic mutation - GH1 or GHRHR genes
empty sella syndrome where the pituitary gland is underdeveloped or damaged
what can cause acquired growth hormone deficiency
infection
trauma
interventions - surgery
how does growth hormone deficiency present
micropenis in males
hypoglycaemia
severe jaundice
in older infants and children it can present as
poor growth, usually stopping/slowing at 2-3
short stature
slow development of movement and strength
delayed puberty
what investigations can be done to diagnose growth hormone deficiency
growth hormone stimulation test - give glucagon/insulin/arginine/clonidine which stimulates growth hormone and look at the response
test other hormone deficiencies
MRI brain
genetic testing - turners or prader-willi
X ray or DEXA scan to determine bone age
how is growth hormone deficiency treated
referral to paediatric endocrinology
- daily subcutaneous injections of growth hormone (somatropin)
- treatment of other associated hormone deficiencies
- close monitoring of height and development
what is congenital hypothyroidism
this is where a child is born with an underactive thyroid gland
can be a result of underdeveloped thyroid gland or a fully developed gland that isnt producing enough hormone
when would you pick up congenital hypothyroidism in a newborn
during the newborn blood spot screening test
how might patients with congenital hypothyroidism present
prolonged neonatal jaundice
poor feeding
constipation
increased sleeping
reduced activity
slow growth and development
what is acquired hypothyroidism
this is where a child/adolescent develops an underactive thyroid when it was previously functioning normally
what is the most common cause of acquired hypothyroidism
autoimmune hypothyroidism - Hashimotos due to anti-TPO and antithyroglobulin abs
how might a child with Hashimotos present
fatigue and low energy
poor growth
weight gain
poor school performance
constipation
dry skin and hair loss
how is hypothyroidism managed in children
referral to a paediatric endocrinologist
- full thyroid function tests and abs
- levothyroxine orally once per day
what is precocious puberty
this is a condition where secondary sexual characteristics appear before 8 in girls and 9 in boys
what are risk factors of precocious puberty
brain tumours
cranial irradiation
McCune-Albright syndrome
gonadal tumours
congenital adrenal hyperplasia
what is the pathophysiology of precocious puberty
centrally mediated: HPG axis is prematurely activated leading to increased serum gonadotropins, the pattern of endocrine change is the same as in normal puberty
Other: secretion of sex steroids is done independent of the hypothalamic GnRH pulse. There is a loss of feedback regulation. Pubertal develop doesnt follow a normal pattern
how is precocious puberty diagnosed
detailed history and exam, parental history and social history
compare growth with previous growth charts
Tanners staging
Prader orchidometer
BLOODS!!
how is precocious puberty managed
GnRH analogues given nasally, subcut or IM in order to suppress secretion of pituitary gonadotropins
- helps to reduce gonadal maturation and reduces skeletal maturation
what is delayed puberty
in males > 14 years
in females > 14 with no breast development or absence of menarche >= 16
what age does puberty start in boys and girls
boys = 9-15
girls = 8-14
what is hypogonadism
this is a lack of sex hormones, oestrogen and testosterone
what are the two causes of hypogonadism
hypogonadotropic hypogonadism hypergonadotropic hypogonadism
what is hypogonadotropic hypogonadism
it is a deficiency in FDH and LH (gonadotrophins) leading to a deficiency in testosterone and oestrogen
what can cause Hypogonadotropic hypogonadism
abnormal functioning of the hypothalamus or pituitary gland
- previous damage: radiotherapy, surgery
- growth hormone deficiency
- hypothyroidism
- hyperprolactinaemia
- serious chronic conditions
- excessive dieting or exercising
- constitutional delay in growth and development
- Kallman syndrome
what is hypergonadotropic hypogonadism
this is where the gonads fail to respond to stimulation from the gonadotrophins
no negative feedback means the anterior pituitary produces large amounts of LH and FSH
what are causes of hypergonadotropic hypogonadism
previous damage to the gonads - torsion, cancer, infection i.e mumps
congenital absence of testes or ovaries
Kleinfelters syndrome (XXY)
Turners syndrome (XO)
what is the threshold for initiating investigations in delayed puberty
when there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14
how is hypogonadism diagnosed
history and exam
assess weight, height, stage of pubertal development
Bloods - FBC, ferritin, U+E, anti TTG or EMA
hormonal testing - FSH and LH, TFT, GH, IGF1, prolactin
genetic testing
imaging - X-ray wrists, pelvic USS, MRI brain
what is Kallmann syndrome
a type of hypogonadotropic hypogonadism - it is characterised by absent or delayed puberty and a lack or loss of sense of smell
what is the pathophysiology of Kallmann syndrome
Genes associated with Kallmann syndrome disrupt the migration of olfactory nerve cells and GnRH producing nerve cells in the developing brain causing an underdevelopment in GnRH production as well as a change in sense of smell
what are the symptoms of Kallmann syndrome
Lack of breast development and menstrual periods in females
no development of sex characteristics in males at puberty - enlarged penis, low voice, hair growth
short stature
anosmia
fatigue
weight gain
mood changes
low sex drive
infertility
what other features unrelated to reproductive health may people with Kallmann syndrome have
renal agenesis - one kidney doesn’t develop
cleft lip and palate
dental abnormalities
poor balance
scoliosis
eye movement issues
how is Kallman syndrome diagnosed
lack of sexual maturity during puberty prompts investigation
- history and examination
- hormone evaluation
- olfactory function testing
- MRI
- genetic testing
How is Kallmann syndrome treated
hormone replacement therapy
- testosterone injections
- oestrogen and progesterone pills/patches
- GnRH injections used to induce ovulation in females
- HCG injections can be used to increase sperm count in males and increase fertility in females
unable to treat anosmia
how do babies present with UTI
fever
lethargy
irritability
vomiting
poor feeding
urinary frequency
what are symptoms of UTI in older infants and children
fever
abdominal pain - suprapubic
vomiting
dysuria
urinary frequency
incontinence
when is a diagnosis of acute pyelonephritis made
when there is either:
a temperature >38
loin pain or tenderness
what is the ideal urine sample for diagnosing UTI
clean catch - avoiding contamination
what will be present in a urine sample in a patient with UTI
Nitrites - suggestive of bacteria
Leukocytes
what is the management of UTI in children
all children under 3 months with a fever should start immediate IV antibiotics (ceftriaxone) have a full septic screen and maybe LP
oral antibiotics will be considered in children over 3 months if otherwise well
- trimethoprim
- nitrofurantoin
- cefalexin
- amoxicillin
when does a patient with recurrent UTI require ultrasound scans
- all children under 6 months with their first UTI should have USS within 6 weeks
- children with recurrent UTIs should have UTI within 6 weeks
- Children with atypical UTIs should have USS during illness
what investigations should be done in a child having recurrent UTI
Ultrasound scans
DMSA scan
Micturating cystourethrogram
what is a DSMA scan
where a radioactive material (DSMA) is injected an using a gamma camera you can visualise this being taken up into the kidneys. Areas where the DSMA isnt taken up indicates scarring that may be a result of previous infection
what is Vesivo-uteric reflux
this is where urine can flow from the bladder back into the ureters. This predisposes patients to developing upper urinary tract infections and scarring
how is Vesico-uteric reflux diagnosed
using micturating cystourethrogram
how is vesico-uteric reflux managed
depends on the severity
- avoid constipation
- avoid excessively full bladder
- prophylactic antibiotics
- surgical input
what is a micturating cystourethrogram
it involves catheterising the patient and injecting contrast into the bladder and taking a series of X-rays to determine whether the contrast is refluxing into the ureters
what is micturating cystourethrogram used for
investigate atypical or recurrent UTIs in children under 6 months
vesico-uteric reflux
dilation of the ureter
poor urinary flow
what is vulvovaginitis
it refers to inflammation and irritation of the vulva and vagina
- common between ages 3-10
what causes vulvovaginitis
irritation caused by sensitive and thin skin and mucosa
- wet nappies
- use of chemicals or soaps when cleaning
- tight clothing
- poor toilet hygiene
- constipation
- threadworms
- pressure i.e horse-riding
- heavily chlorinated pools
how does vulvovaginitis present
soreness
itching
erythema around the labia
vaginal discharge
dysuria
constipation
urine dipstick - leukocytes with no nitrites
how is vulvovaginitis treated
generally no medical treatment is required and management focuses on simple measures
- avoid washing with soap/chemicals
- avoid perfumed or antiseptic products
- good toilet hygiene
- keep area dry
- emollients
- loose clothing
- treat constipation and worms if applicable
- avoid activities that exacerbate the issue
what is nephrotic syndrome
when the basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak into the urine
what are the symptoms of nephrotic syndrome
frothy urine
generalised oedema
pallor
what are the features of nephrotic syndrome
Triad:
low serum albumin
high proteinuria (3+)
oedema
also have deranged lipid profile with high cholesterol, triglycerides and LDLP, high blood pressure and hypercoagulability
what are causes of nephrotic syndrome
minimal change disease - most common
focal segmental glomerulosclerosis
membranoproliferative glomerulonephritis
Henoch schonlein purpura
diabetes
infection - HIV, hepatitis, malaria
what is minimal change disease
common cause of nephrotic syndrome where on renal biopsy and microscopy there is minimal/no abnormalities seen
what does urinalysis in minimal change disease show
small molecular weight proteins and hyaline casts
what is the management of minimal change disease
corticosteroids - prednisolone
how is nephrotic syndrome managed
High dose steroids given for 4 weeks and then gradually weaned
low salt diet
diuretics to treat oedema
albumin infusions in severe hypalbuminaemia
antibiotic prophylaxis
what are the different steroid responses in nephrotic syndrome
- steroid sensitive - response to steroids (80%)
- steroid dependent - struggle to wean of steroids due to relapse
- steroid resistant - dont respond
what are steroid resistant children given to treat nephrotic syndrome
ACE inhibitors
immunosuppressants - cyclosporin, rituximab
what are complications of nephrotic syndrome
hypovolaemia as fluid leaks into interstitial space
thrombosis
infection as kidneys leak immunoglobulins
acute or chronic renal failure
relapse
what is nephritis
inflammation within the nephrons of the kidneys causing reduced kidney function, haematuria and proteinuria
what are the two most common causes of nephritis in children
Post streptococcal glomerulonephritis and IgA nephropathy
what is post streptococcal glomerulonephritis
occurs 1-3 weeks after beta-haemolytic streptococcus, where immune complexes get stuck in the glomeruli and cause inflammation leading to AKI
what are the symptoms of post streptococcal glomerulonephritis
can be asymptomatic
- history of tonsillitis
- malaise
- headache
- vague loin discomfort
- dyspnoea
- smoky urine
- oedema
- anaemia
- raised BP
what investigations are done for post streptococcal glomerulonephritis
urine sample - blood and protein on dipstick
bloods
imaging
ECG
what is the management of post streptococcal glomerulonephritis
supportive management - weighing, vitals, strict monitoring of fluid input and output
diet high in carbs
antihypertensives and diuretics may be given
daily urinalysis
What causes IgA nephropathy
IgA deposits in the nephrons of the kidneys causing inflammation
what does a renal biopsy show in IgA nephropathy
IgA deposits and glomerular mesangial proliferation
what disease is IgA nephropathy also associated with
Henoch-schonlein purpura
what are signs/symptoms of IgA nephropathy
may not have any especially in early disease
- haematuria
- proteinuria
- urinating less often or small amounts
- oedema in legs/feet/eyes
what are complications of IgA nephropathy
hypertension
rapidly progressive glomerulonephritis
acute kidney injury
how is IgA glomerulonephritis diagnosed
- urine sample
- bloods
- USS
- renal biopsy
how is IgA nephropathy treated
supportive treatment of the renal failure and immunosuppressant medications i.e steroids and cyclophosphamide to slow progression
when does IgA nephropathy normally present
in teenagers or young adults
what is acute glomerulonephritis
glomerular injury usually involving inflammatory changes in the glomerular capillaries and glomerular basement membrane
what can cause acute glomerulonephritis
leukocyte infiltration, antibody deposition and complement activation
- infections
- systemic inflammatory conditions
- drugs
- metabolic disorders
- malignancy
- hereditary disorders
- deposition diseases
what are most nephritic syndromes triggered by
immune mediated injury
what are features of acute glomerulonephritis
haematuria with red cell casts
proteinuria
hypertension
what are complicated presentations of acute glomerulonephritis
hypertensive encephalopathy: restless, drowsy, severe HA, fits, decreased vision, vomiting
AKI: acidosis, hyperkalaemia, seziure, stupor
Fluid overload: pulmonary oedema, cardiac failure
Mixed nephritic-nephrotic
how do you diagnose acute glomerulonephritis
urinalysis
bloods
throat swabs
chest X ray
renal biopsy
how do you treat acute glomerulonephritis
supportive
treat underlying infection or cause
monitor fluid balance - restrict/diuretics
beck BP often and salt
if encephalopathy give sodium nitroprusside
haemodialysis if severe renal failure
what can cause nephritic syndrome
Post strep glomerulonephritis
bacterial endocarditis
viral kidney infections
HIV
lupus
Goodpasture’s syndrome
IgA nephropathy
polyarteritis
granulomatosis with polyangiitis
high blood pressure
diabetic nephropathy
focal segmental glomerulosclerosis
what is Goodpastures syndrome
anti-glomerular basement membrane disease
anti-GBM antibodies attach the glomerulus and pulmonary basement membranes
what antibodies are present in
a. microscopic Polyangiitis
b. granulomatosis with polyangiitis
a. P-ANCA
b. C-ANCA
what is haemolytic uraemic syndrome
thrombosis in small blood vessels throughout the body
what normally causes haemolytic uraemic syndrome
shiga toxins from wither E.coli 0157 or shigella
what is the ‘classic triad’ of Haemolytic uraemic syndrome
microangiopathic haemolytic anaemia
acute kidney injury
thrombocytopenia
what is microangiopathic haemolytic anaemia
destruction of red blood cells due to pathology in the small vessels
- tiny blood clots partially obstruct the small blood vessels and churn the red cells as they pass through causing them to rupture
how does haemolytic uraemic syndrome present
may initially have a gastroenteritis sx
- fever
- abdominal pain
- lethargy
- pallor
- reduced urine output
- haematuria
- hypertension
- bruising
- jaundice
- confusion
what is the management of haemolytic uraemic syndrome
medical emergency and requires hospital admission
- IV fluids
- blood transfusions
- haemodialysis
- control high blood pressure
- stool culture to establish causative organism
what is enuresis
involuntary urination
what is nocturnal enuresis
bed wetting
what is primary nocturnal enuresis
it is where a child has never managed to be consistently dry at night
what are causes of primary nocturnal enuresis
most commonly a variation on normal development
overactive bladder
fluid intake prior to bed - fizzy drinks, juice
failure to wake - deep sleep
psychological distress
secondary causes - chronic constipation, UTI, learning difficulties or cerebral palsy
what is the initial step in managing primary nocturnal enuresis
establish underlying cause - 2 week diary of toileting, fluid intake and bedwetting episodes
what is the management of primary nocturnal enuresis
reassure parents of children under 5 that it is likely to resolve without treatment
lifestyle changes: reduced fluid intake in the evenings, pass urine before bed
encouragement and positive reinforcement
treat any underlying causes of exacerbating factors
enuresis alarms
pharmacological treatment
what is secondary nocturnal enuresis
bed wetting when they have been previously dry for at least 6 months
what are causes of secondary nocturnal enuresis
UTI
constipation
type 1 diabetes
new psychological problems
maltreatment
think abuse and safeguarding
what is diurnal enuresis
daytime incontinence
what causes diurnal enuresis
urge incontinence
stress incontinence
recurrent UTI
psychosocial issues
constipation
what is an enuresis alarm
this is a device that makes a noise at the first sign of bed wetting, waking the child and stopping them from urinating
- requires a high level of training and commitment and needs to be used consistently for at least 3 months
what pharmacological treatment can be used to help with nocturnal enuresis
desmopressin - reduced the volume of urine produced by the kidneys
oxybutynin - anticholinergic and reduces contractility of the bladder
imipramine - TCA
what are the two types of polycystic kidney disease
autosomal recessive PKD
autosomal dominant PKD
when does autosomal recessive polycystic kidney disease present
in neonates - usually picked up on antenatal ultrasound scans
what causes autosomal recessive polycystic kidney disease
mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6
- gene codes for fibrocystin/productin protein complex responsible for the creation of tubules and maintenance of healthy epithelial tissue
what are features of autosomal recessive polycystic kidney disease
cystic enlargement of the renal collecting ducts
oligohydramnios (too little amniotic fluid), pulmonary hypoplasia and Potter syndrome (lack of amniotic fluid and kidney failure in unborn infant)
congenital liver fibroids
what are the characteristics of Potter syndrome
dysmorphic features - underdeveloped ear cartilage, low set ears, flat nasal bridge, abnormalities in skeleton
what issues might people with polycystic kidney disease have throughout life
liver failure due to fibrosis
portal hypertension
progressive renal failure
hypertension
chronic lung disease
what is multicystic dysplastic kidney
where the babies kidneys is made up of many cysts while the other kidney is normal (separate to polycystic kidney disease)
how is multicystic dysplastic kidney diagnosed
antenatal ultrasound scans
what is the outcome of multicystic dyspastic kidney
usually the healthy kidney is sufficient to lead a normal life - often the cystic kidney will atrophy and disappear before the age of 5
what is Wilms tumour
it is a specific type of tumour affecting the kidneys in children, typically under the age of 5
how does Wilms tumour present
mass in the abdomen
abdominal pain
haematuria
lethargy
fever
hypertension
weight loss
how is Wilms tumour diagnosed
ultrasound of abdomen to look at kidneys
CT or MRI to stage tumour
biopsy for definitive diagnosis
how is Wilms tumour managed
surgical excision of the tumour along with the affected kidney
adjuvant treatment - chemotherapy and radiotherapy
what is the prognosis for Wilms tumour
early stage tumours with good histology hold up to 90% cure rate
metastatic disease has a poorer prognosis
what is a posterior urethral valve
it is an issue where there is tissue at the proximal end of the urethra (closest to bladder) what causes an obstruction of urine output
does posterior urethral valve occur in newborn girls or boys
boys
what does posterior urethral valve cause
it causes obstruction to the outflow of urine creating a back pressure into the bladder, ureters and up to the kidneys causing hydronephrosis
a restriction in the urine outflow prevents the bladder emptying fully increasing the risk of UTI
how does posterior urethral valve present
mild cases may be asymptomatic
difficulty urinating
weak urinary stream
chronic urinary retention
palpable bladder
recurrent urinary tract infections
impaired kidney unction
what investigations are done for proximal urethral valve
severe cases may be picked up on antenatal scans as oligohydramnios and hydronephrosis
abdominal UUS
micturating cystourethrogram
cystoscopy and ablation
how is proximal urethral valve managed
mild cases - observed and monitored
catheter temporarily
ablation is definitive management or removal of the extra urethral tissue
where do the testes develop in a fetus
in the abdomen
what are undescended tests
where the testes have not migrated down into the scrotum
what do undescended testes carry a risk of
in older children or after puberty it carries a higher risk of testicular torsion, infertility and testicular cancer
what are risk factors for undescended testes
family history of undescended testes
low birth weight
small for gestational age
prematurity
maternal smoking during pregnancy
what is the management for undescended testes
watching and waiting is appropriate in newborns - most cases will descend in 3-6 months
if they have not descended by 6 months they should be seen by a paediatric urologist
orchidopexy (surgery) should be carried out between 6 -12 months of age
what are retractile testicles
in boys that have not reached puberty their testes can move in and out of the scrotum and into the inguinal canal when cold or the cremasteric reflex is activated
this usually resolves as they go through puberty and the testes settle in the scrotum
what is hypospadias
it is a condition affecting males where the urethral meatus (opening) is abnormally displaced to the ventral side (underside) of the penis towards the scrotum or further
what is epispadias
this is where the meatus is displaced to the dorsal side (top side) of the penis
how is hypospadias diagnosed
it is a congenital condition affecting babies from birth so it is usually diagnosed on the examination of the newborn
what is the management of hypospadias
paediatric specialist urologist referral
not to circumcise infant until urologist says its okay
mild cases may not require treatment
surgery is usually performed after 3-4 months of age
surgery aims to correct the position of the meatus and straighten the penis
what are the complications of hypospadias
difficulty directing urination
cosmetic and psychological concerns
sexual dysfunction
what is hydrocele
a collection of fluid within the tunica vaginalis that surrounds the testes
what is a simple hydrocele
it is when fluid is trapped in the tunica vaginalis which then gets reabsorbed over time
what is a communicating hydrocele
it is where the tunica vaginalis around the testicle is connected with the peritoneal cavity via a pathway called the processus vaginalis, this allows fluid to travel rom the peritoneal cavity into the hydrocele, allowing the hydrocele to fluctuate in size
how is a hydrocele identified on examination
causes a soft, smooth, non tender swelling around one of the testes.
swelling will be in front and below the testicle
they will transilluminate with light
what are differential diagnosis for hydrocele
partially undescended testes
inguinal hernia
testicular torsion
haemotoma
tumours (rare)
what is the management of hydrocele
ultrasound to confirm diagnosis
simple hydroceles will resolve within 2 years, just require regular follow up. May require surgery if associates with other issues
communicating hydrocele can be treated with a surgical operation to remove or ligate the connection between the peritoneal cavity and the hydrocele
what is Phimosis
condition of the penis where the foreskin cant be retracted (very tight)
what are the two types of phimosis
physiologic - often in children and resolves and they get older
pathologic - infection, inflammation or scarring (lichen sclerosis) causes pathologic phimosis
how common is phimosis
nearly al babies assigned male at birth have physiological phimosis and as they grow the foreskin changes and gradually pulls back
what are symptoms of phimosis
cant pull foreskin back from head of penis
discoloration
swelling
soreness or pain
pain while urinating
weak pee stream
blood in urine
smegma
pain on erection or sexual intercourse
ballooning during micturition
paraphimosis (engorgement) - emergency
what is the main cause of pathological phimosis
pathologic phimosis is most commonly caused by infection including STI, or scarring,
skin conditions - eczema, psoriasis, lichen sclerosus
Penile adhesions or scar tissue
injuries
what are the complications of phimosis
foreskin inflammation, glans inflammation or foreskin and glans inflammation
UTI
foreskin tears
foreskin gets stuck of trapped behind the glans and you cant pull it down
poor hygiene
long standing - penile cancer
how is phimosis diagnosed
physical exam
history
urinalysis
urethral discharge culture
how is phimosis managed
physiologic phimosis usually doesnt need treatment
- corticosteroid cream or gel
- antibiotics
- phimosis surgery involving circumcision
what are complications of circumcision
bleeding
infection
foreskin is too short or long
pain
How do you treat phimosis
manipulation with ice packs
compression
osmotic agent
puncture technique
surgical reduction and circumcision
what is horseshoe kidney
this is a fusion defect of the kidneys with abnormal position, rotation and vascular supply of the kidneys
what are the features of horseshoe kidney
usually asymptomatic and identified incidentally
may present with abdominal pain and UTI infection
how is horseshoe kidney diagnosed
USS or CT/MRI
CT urogram may help identify stones, blockages and uteropelvic junction blocks
what are renal malformations that may be present in a child
complete absence of one or both kidneys
kidneys that are fused together
obstructive renal pelvis defect (partial or complete blockage of kidney drainage)
structural issues
what are signs of paediatric renal malformation
may be seen on ultrasound during pregnancy
- distended bladder
failure to thrive
frequent urination
frequent UTI
incontinence
nighttime bedwetting
pain when urinating
issues with starting urine flow
weak urinary stream
what is Pica
it is when people eat non edible items - rather common in children
at what age is pica not diagnosed
below two as children this age explore objects by mouthing
what are reasons why a child might develop pica
negative conditions - more common in children living in low socioeconomic situations
nutritional deficiencies - iron, calcium and zinc deficiencies
more common in those with learning disabilities or children with autism
sensory issues
emotional regulation
what needs to be established when taking a history from a child with pica
what was ingested - is there a risk of poisoning
what are the complications of pica
poisoning/clinical manifestations - neurological and gastrointestinal side effects
infection/infestation
gastrointestinal - constipation, ulceration, perforation, obstruction
dental - tooth abrasion and tooth surface loss
how is pica diagnosed
using the DSM-V diagnostic criteria
what investigations should be done for a child with pica
bloods - FBC, U+E, iron studies, LFT, calcium, phosphate, magnesium, trace elements
what is the management for children with pica
MDT approach - physicians, social work, dieticians, psychologists, dentists
positive reinforcement
physical interventions
discrimination training between edible and inedible substances
visual screening, with covering eyes for short period of time if pica is attempted
what is androgen insensitivity syndrome
condition that affects sexual development before birth and during puberty where someone is genetically male however tissues arent able to respond to testosterone and as a result they have external sexual characteristics of a female
what are the three forms of androgen insensitivity syndrome
complete
partial
mild
what is complete androgen insensitivity syndrome
this is when the body doesnt respond to androgens at all.
people with this form have external sex characteristics that are typical of a female but do not have a uterus they have male internal sex organs
what is partial androgen insensitivity syndrome
it is when the bodies tissue is partially sensitive to androgens.
people with this can have genitalia that looks typical for females, genitalia that have both male and female characteristics or typical male genitalia
are symptoms of mild androgen insensitivity syndrome
people with this are born with male typical sex characteristics but they are often infertile and tend to experience breast enlargement at puberty
what are the causes of androgen insensitivity syndrome
mutations in the AR gene which codes for a protein called androgen receptor
how is androgen insensitivity syndrome inherited
X linked recessive syndrome
what are the symptoms of complete androgen insensitivity syndrome
person with CAIS appears female with no uterus, fallopian tubes or ovaries
very little armpit or pubic hair
at puberty female sex characteristics develop however the person does no menstruate or become fertile
how is androgen insensitivity syndrome diagnosed
in CAIS its rarely discovered in childhood where as PAIS can be due to the person possibly presenting with both male and female characteristics
Bloods - testosterone, LH, FSH
genetic testing
sperm count
testicular biopsy
pelvic ultrasound
what is the treatment for androgen insensitivity syndrome
CAIS - testicles removed once the child goes through puberty. Oestrogen replacement prescribed after puberty. may do vaginal dilation
PIAS - gender evaluation, surgery once child is older, receive androgens if wanting to present male or oestrogen if wanting to present female
child and parents need to receive care and support from MDT team specialising in gender medicine
what are possible complications of androgen insensitivity syndrome
infertility
psychological and social issues
testicular cancer
what is testicular torsion
it is the twisting of the spermatic cord with rotation of the testicle and is a urological emergency !
what is testicular torsion often triggered by
activity such as playing sports
how does testicular torsion present
acute rapid onset unilateral testicular pain
may be associated with abdo pain and vomiting
what are the examination findings in testicular torsion
firm swollen testicle
elevated testicle
absent cremasteric reflex
abnormal lie
rotation - epididymis not in normal position
what is a bell clapper deformity
it is one of the causes of testicular torsion. it is where the fixation between the testicle and the tunica vaginalis is absent and the testicle hangs in a horizontal position rather than more vertical, and can twist within the tunica vaginalis
what is the management of testicular torsion
emergency !
nil by mouth in preparation for surgery
analgesia where required
urgent senior urology assessment
surgical exploration of the scrotum
orchiopexy - corrective and fixing
orchidectomy if testicle necrosed
what will testicular torsion look like on ultrasound
there will be the whirlpool sign - spiral appearance to spermatic cord and blood vessels
what is pyelonephritis
it is inflammation of the kidney resulting from a bacterial infection
what are risk factors for pyelonephritis
female sex
structural urological abnormalities
vesico-uteric reflux (usually in children)
diabetes
what are causes of pyelonephritis
E. coli - mc
klebsiella pneumoniae
enterococcus
pseudomonas aeruginosa
staphylococcus saprophyticus
candida albicans (fungal)
how does pyelonephritis present
lower UTI symptoms
fever
loin or back pain
nausea and vomiting
patients may also have systemic illness, LOA, haematuria and renal angle tenderness
what investigations are done or pyelonephritis
urine dipstick - +++ leukocytes and nitrites
MSU for MCS
bloods
ultrasound or CT scan
what is the management of pyelonephritis
in the community: 7-10 days of cefalexin, co-amox/trimethoprim (if culture results avaiable), ciprofloxacin
in hospital: IV antibiotics and IV fluids (think sepsis 6)
what is chronic pyelonephritis
recurrent episodes of kidney infection which can lead to scarring and chronic kidney disease.
DMSA scans can be used to look at the damage to kidneys post infection
what are causes of kidney disease in children
birth defects
hereditary diseases
infection
nephrotic syndrome
systemic diseases
trauma
urine blockage or reflux
what birth defects can cause kidney disease
renal agenesis - where a baby is born with one or both kidneys missing
kidney dysplasia - parts of one or both of kidneys dont develop normally
renal hypoplasia - when a baby is born with one or both kidneys are smaller and have fewer nephrons
what hereditary diseases can cause kidney disease
polycystic kidney disease
alport syndrome - affects the outer lining of the cells in the kidneys
what infections can cause kidney disease
haemolytic uraemic syndrome
post streptococcal/post infectious glomerulonephritis
what systemic diseases can cause kidney disease
lupus
what trauma can cause kidney disease
burns
dehydration
bleeding
injury
surgery
- anything that causes low blood flow pressure to the kidney
how is kidney disease diagnosed in children
urine testing
bloods - look at GFR
imaging - USS, CT
biopsy
genetics
what medications may be prescribed for a child with kidney disease
Depending on the underlying cause:
ACE inhibitors/ARBs to lower bp
diuretics
corticosteroids
phosphate binders
growth hormone therapy
sodium bicarbonate
antibiotics
what dietary changes may be suggested in a child with kidney disease
monitor protein, sodium, potassium and liquid
limiting phosphorus
taking vitamin/mineral supplementation
how is kidney failure treated in children
kidney transplant
hemodialysis
peritoneal dialysis
what are causes of pre renal AKI
hypovolaemia
nephrotic syndrome
peripheral vasodilation
impaired cardiac output
drugs
what are causes of renal AKI
acute tubular necrosis (following pre-renal)
interstitial nephritis
glomerulonephritis
haemolytic-uraemic syndrome
cortical necrosis
bilateral pyelonephritis
nephrotoxic drugs
myoglobinuria/haemoglobinuria
tubular lysis syndrome
renal artery/vein thrombosis
what are causes of post renal AKI
obstruction
post urethral valves
neurogenic bladder
calculi
tumours
what investigations should be done in a child with possible AKI
urine - urinalysis with microscopy and culture, protein: creatinine ratio, myoglobin
Bloods - U+E, creatinine, albumin, glucose, bicarb, FBC, blood cultures, auto-anitbodies, clotting
cultures - stool and throat swab
Imaging - USS and CXR
how is a child with AKI treated
observations
fluid management
electrolyte monitoring - K+, PO4
BP management
medications
potentially dialysis if child is very unwell
what are indications for dialysis in AKI
severe hyperkalaemia
symptomatic uraemia with vomiting/encephalopathy
rapidly rising urea and creatinine
symptomatic fluid overload
uncontrollable hypertension
encephalopathy or seizures
symptomatic electrolyte problems or acidosis
prolonged oliguria
to remove toxins
when should CKD be suspected in paediatric patients
failure to thrive
polyuria and polydipsia
lethargy, lack of energy, poor school concentration
other abnormalities such as rickets
at what CKD stage do children become symptomatic
most children are asymptomatic until approaching chronic renal disease stage 4
how do you calculate the estimated GFR
40 X height (cm) / creatinine (umol/L)
what are congenital causes of chronic kidney disease
renal dysplasia
obstructive uropathies
vesicoureteric reflux nephropathy
what are hereditary causes of chronic kidney disease
Polycystic kidney disease
nephronophtisis
hereditary nephritis
cystinosis
oxalosis
what glomerulopathies can cause chronic kidney disease
focal segmental glomerulonephritis
what multisystem disorders can cause chronic kidney disease
systemic lupus erythematosus
Henoch-schonlein purpura
haemoytic uraemic syndrome
what investigations should be done in a child with suspected CKD
urinalysis
bloods - FBC, iron studies, electrolytes, pH, PTH, U+E
renal tract USS
left hand and wrist X ray for bone age
ECG/ECHO
how is CKD treated in children
referral to paediatric nephrologist, treatment will depend on underlying cause
- dietician input - vitamin supplements and -
- minimum protein
- fluid and electrolyte balance
- oral iron supplements + subcut epo
- control hypertension, reduce proteinuria, statins
- dialysis
- renal transplant
what is renal dysplasia
small kidneys
what is renal agenesis
it is where baby is born with only one/no kidneys
what are the different types of renal agenesis
unilateral
bilateral
what are symptoms of renal agenesis
a child with no working kidneys and underdeveloped lungs (potter syndrome) will have life threatening issues soon after birth
high blood pressure
proteinuria
vesicoureteral reflux
clubfoot
congenital heart conditions - ASD/VSD
congenital urological abnormalities
imperforate anus or anal atresia
how is renal agenesis diagnosed
often picked up on antenatal scans due to low levels of amniotic fluid
ultrasound
after birth - abdominal uss, CT, MRI
how is renal agenesis treated
4/10 fetuses with bilateral renal agenesis die in utero or are premature with most dying from respiratory distress after birth
inject saline into uterus to restore amniotic fluid
after birth dialysis until a kidney transplant is available
unilateral agenesis may require blood pressure medication, frequent examinations, kidney function tests and urine protein tests
what is Henoch-schonlein purpura
it is an IgA vasculitis which presents with glomerulonephritis, abdominal pain, arthralgia and purpura
what are risk factors for Henoch-schonlein purpura
most notable is a preceding upper respiratory tract infection
age: 4-6 years
male sex
what are symptoms of Henoch-schonlein purpura
purpuric and petechial rash commonly on lower back and buttock
abdominal pain associated with nausea and vomiting and less commonly bloody diarrhoea
joint pain in knees and ankles
frothy urine
haematuria
low grade fever
preceding upper respiratory tract infection
what will be seen on clinical examination in a child with Henoch-schonlein purpura
rash on lower limbs and buttocks
arthralgia most commonly in the hips, knees and ankles with tenderness and swelling
GI symptoms (50%)
haematuira, proteinuria, nephrotic/nephritic syndrome and renal failure
what are differential diagnosis for Henoch-schonlein purpura
meningococcal septicaemia
idiopathic thrombocytopenic purpura
haemolytic uraemic syndrome
mechanical causes
what investigations need to be done in a child with suspected Henoch-schonlein purpura
blood pressure
urinalysis
bloods - U+E, FBC, clotting, LFT, anti-streptolysin O antibodies (group A strep)
imaging - abdominal USS
other - renal biopsy
what is the diagnostic criteria for Henoch-schonlein purpura
palpable purpura and one of the following:
- diffuse abdominal pain
- arthralgia
- renal involvement
- typical histopathology (glomerulonephritis or vasculitis)
how is Henoch-schonlein purpura managed
most children will have complete spontaneous recovery within weeks to months but may require supportive care
- paracetamol
- prednisolone
- NSAIDS
what is the follow up for Henoch-schonlein purpura
followed closely to ensure renal involvement doesnt occur
urine dip and BP regularly or 6 months after diagnosis
children with concerning features must be re-reviewed in secondary care
children can be discharged if they have two consecutive normal urine dips and normal BP at 6 months
what are complications of Henoch-schonlein purpura
relapse - 30-40%
renal failure - 1%
what is multicystic dysplastic kidney
condition where one or both of a babies kidneys dont develop normally in utero where cysts replace normal kidney tissue
what are the different types of multicystic dysplastic kidney
unilateral
bilateral
what are symptoms of multicystic dysplastic kidney
babies with multicystic dysplastic kidney in only one kidney will have no signs, some babies the affected kidney may be large and cause pain
in babies with bilateral multicystic dysplastic kidney they often do not survive after birth
how is multicystic dysplastic kidney diagnosed
antenatal scans will often pick up multicystic dysplastic kidney
may be found incidentally on scans for other conditions after birth
how is multicystic dysplastic kidney managed
if no symptoms - regular checks to test for BP, bloods (kidney function tests), urine tests and regular ultrasounds
if the affected kidney doesnt shrink over time, the child may have surgery to remove it
if both kidneys are affected or the healthy kidney is damaged then a kidney transplant, haemodialysis or peritoneal dialysis will be required
what is fanconi syndrome
condition which affects the proximal tubules of the kidney and their ability to absorb electrolytes and other substances
what molecules are unable to be reabsorbed correctly in fanconi syndrome
phosphorus
glucose
potassium
bicarbonate
uric acid
amino acids
what are symptoms of inherited fanconi syndrome
polyuria
dehydration
polydipsia
pain in your bones
muscle weakness
bone weakness
bone fractures
small stature
what are symptoms of acquired fanconi syndrome
muscle weakness
hypophosphatemia
hypokalemia
hyperaminoaciduria
metabolic acidosis
polyuria
dehydration
polydipsia
what are the two kinds of fanconi anaemia
inherited
acquired
what causes inherited Fanconi syndrome
cystinosis - amino acid cystine builds up in body and causes many issues
Lowe syndrome
Wilsons disease
inherited fructose intolerance
Dent disease
glycogenosis
Hereditary tyrosinemia type 1
what causes acquired fanconi syndrome
certain drugs - antibiotics, antiretrovirals, chemotherapy, anticancer medication
kidney transplant
multiple myeloma
heavy metal poisoning - lead
other things
which medications cause fanconi syndrome
cisplatin
ifosfamide
tenofovir
valproic acid
aminoglycoside antibiotics - gentamicin
deferasirox
how is fanconi syndrome diagnosed
history and exam
urinalysis
bloods
how is fanconi syndrome treated
inherited often has no cure, acquired you may recover
- IV fluids
- sodium bicarb to restore pH
- phosphate supplement plus vitamin D
- in certain conditions need to avoid fructose, glucose or tyrosine
- remove any medications that may be causing it
what are complications of childhood obesity
type 2 diabetes
high cholesterol and BP
joint pain
breathing issues
NAFLD
social and emotional complications
