PAEDS - renal/urinary, neuro, psych, endocrine/reproductive Flashcards
1
Q
what is testicular torsion?
A
a twisted spermatic cord, ischaemia of testes
2
Q
when are the two peaks of incidence of testicular torsion?
A
neonatal and puberty
3
Q
presentation of testicular torsion (4)
A
- SUDDEN ONSET SEVERE PAIN (unilateral)
- vomiting/nausea
- tender testicle
- abdominal pain
4
Q
what are LATE signs of testicular torsion?
A
redness and swelling
5
Q
investigations for testicular torsion
A
clinical - only reliably diagnosed with surgical exploration
6
Q
what is the window of time for surgically treating testicular torsion?
A
6 hours
7
Q
key differential for testicular torsion and how it presents differently
A
- torsion of appendix testes (called the hydatid of morgagni)
- this is a remnant of the Mullarian duct
- mimics testicular torsion but pain not as severe/acute, prepuburtal, looks like “blue dot”
8
Q
what constitutes an atypical UTI in children? (5)
A
- septicaemia
- non e.coli organism
- poor urine flow
- not responding to tx in 48h
- abdominal/bladder mass
9
Q
what is the most common bacterial cause of UTIs in children? what are two other possible causes and which is more common in boys?
A
E.COLI
others - proteus mirabilis (boys) and staph saprophyticus
10
Q
what is a big risk factor for paediatric UTIs? give 3 examples
A
structural abnormalities e.g.
- horseshoe kidney
- duplex kidney (two ureters from one kidney)
- vesicoureteric reflux (VUR)
11
Q
UTI signs/symptoms in infants <3m
A
common
- fever
- vomiting
- lethargy
- irritability
- poor feeding
- failure to thrive
less common
- abdo pain
- jaundice
- haematuria
- offensive urine
12
Q
signs and symptoms of UTIs in children/infants >3m
A
- fever
- frequency/dysuria
- dysfunctional voiding/changes to continence
- abdominal pain
- loin tenderness
- less common = malaise, vomiting, haematuria, offensive/cloudy urine
13
Q
signs of acute pyelonephritis in children (2)
A
- fever >38 degrees
- loin pain/tenderness
14
Q
what may be the ONLY sign of a UTI in children?
A
FEVER
15
Q
investigating UTIs in children - what are some urine sampling techniques? what is gold std?
A
- cotton wool in nappy
- bag urine
- clean catch (midstream)
- gold std = in/out catheter or suprapubic aspirate
16
Q
what tests are done on a child’s urine sample when investigating a UTI?
A
- urine dipstick
- MSU for culture and sensitivity testing
17
Q
what indicates a UTI on a urine dipstick?
A
high nitrites
high leukocyte esterase
18
Q
what are the 3 indications for ultrasound scanning when investigating a paediatric UTI?
A
- all children <6 months
- children with recurrent UTIs
- children with atypical UTIs (e.g. not treating w abx)
19
Q
what imaging techniques can be used when investigating paeds UTIs? (3)
A
- ultrasound
- micturating cystourethrogram (MSUG)
- DMSA scan
20
Q
when are IV vs oral abx indicated in the tx of children with UTIs?
A
IV if <3 months
oral if >3m (if otherwise well)
21
Q
UTI management in:
a) <3m old
b) >3m old with upper UTI
c) >3m old with lower UTI
A
a) immediate referral to paediatrician
b) consider admission to hospital, if not oral abx e.g. cephalosporin/co-amoxiclav for 7-10 days
c) oral abx for 3 days
22
Q
oral abx options for children with a lower UTI
A
- trimethoprim (usually)
- nitrofurantoin
- cephalosporin
- amoxicillin
23
Q
3 indications for follow-up clinics following a UTI in children
A
- all children <3m
- children of any age who were systemically unwell
- children with recurrent UTIs
24
Q
long-term complications of UTIs in children
A
- kidney scarring
- HTN
- CKD
25
when should most children have achieved day AND night continence?
3-4 years old
26
what is primary vs secondary nocturnal eneuresis?
primary - child has never achieved continence
secondary - child has been dry for at least 6m before
27
causes of secondary nocturnal enuresis
1. diabetes
2. constipation
3. UTI (if v recent)
28
why is nocturnal enuresis common in young children? (2)
1. smaller bladder = less capacity
2. sensation of full bladder doesnt wake up child when they're young
29
management of nocturnal enuresis if child <5
reassurance - will most likely self resolve
30
management of nocturnal enuresis if child >5
a) general advice
b) 1st line
c) 2nd line
a) fluid intake, toileting patterns e.g. regular emptying, lifting and waking, reward systems
b) enuresis alarm
c) desmopressin (for short-term e.g. sleepover or if enuresis ineffective/unacceptable)
31
criteria for diagnosing paediatric AKI
- creatinine
- urine output
- eGFR
(4)
either:
- rise in creatinine of 26umol/L in 48 hours
- >50% rise in creatinine over 7 days
- fall in urine output to <0.5ml/kg/hr for more than 8 hours
- >25% fall in eGFR in 7 days
32
AKI stage 1 (3)
1. increase in creatinine to 1.5-1.9 times baseline
OR
2. increase in creatinine by >26.5umol/L
OR
3. reduction in urine output to <0.5ml/kg/hr for >8 hours
33
AKI stage 2 (2)
1. increase in creatinine to 2.0-2.9 x baseline
OR
2. reduction in urine output to <0.5ml/kg/hour for >12 hours
34
AKI stage 3 (4)
1. increase in creatinine to 3.0 x baseline
OR
2. increase in creatinine to >353.6umol/l
OR
3. reduction in urine to <0.3ml/kg/hr in >24 hours
OR
4. decrease in eGFR to <35
35
causes of paediatric AKI (4)
1. obstruction/blockage e.g. PUV, PUJ obstruction
2. haemolytic uraemic syndrome
3. glomerulonephritis
4. decreased blood to kidneys e.g. blood loss, surgery, shock
36
causes of paediatric CKD (5)
1. prolonged urinary tract obstruction
2. alport syndrome (inherited)
3. nephrotic syndrome
4. PKD
5. cystinosis
37
signs and symptoms of AKI
- fever
- rash
- haemorrhage
- bloody diarrhoea
- vomiting
- abdo pain
- pale skin
- no urine or high urine output
38
signs and symptoms of CKD
- poor appetite
- vomiting
- bone pain
- headache
- no urine
- urinary incontinence
- recurrent UTIs
- pale skin
- malaise
39
investigations for paediatric AKI/CKD (4)
1. bloods - high creatinine
2. urinary tests - may have haematuria
3. renal USS - mass, stones, cyst, obstruction
4. renal biopsy
40
management of paediatric AKI
depends on cause!!!
- IV fluids
- diuretic therapy
- monitor electrolytes
- antihypertensives
41
management of paediatric CKD
- meds for growth, prevent bone density loss, tx anaemia
- diuretic therapy (increase UO, lower BP)
- dialysis
- kidney transplant (definitive)
42
what is nephrotic syndrome?
inflammation of podocytes, causing kidneys to leak PROTEIN
43
peak incidence of nephrotic syndrome in children
2-5 years
44
what is the most common nephrotic syndrome in children?
minimal change glomerulonephritis
45
primary causes of paediatric nephrotic syndrome (3)
1. minimal change disease
2. focal segmental glomerulosclerosis (FSGS)
3. membranous nephropathy (more in adults)
46
secondary causes of paediatric nephrotic syndrome (4)
1. henoch-schonlein purpura
2. SLE
3. infection e.g. malaria
4. allergens e.g. bee sting
47
pathophysiology of minimal change disease
in general - lose albumin and proteins in clotting cascade
1. t cells damage, flatten foot processes
2. podocytes more permeable (defacement)
3. albumin slips through > lost in urine (hypoalbuminemia)
4. selective proteinuria e.g. immunoglobulins
48
why do you get oedema in nephrotic syndrome?
- albumin's function is osmotic regulation
- albumin pulls water out of interstitial space into vascular stream
- so if hypoalbumin > water stays in interstitial space > oedema
49
nephrotic syndrome triad
1. proteinuria (>3.5g/24hrs)
2. hypoalbuminaemia (<25g/l)
3. oedema
50
signs of nephrotic syndrome
1. oedema - face, scrotum, ankles
2. frothy urine
3. pallor
can get hypercoagulability (proteins that prevent clotting are lost in urine)
51
investigations & results for nephrotic syndrome (5)
what is diagnostic?
1. urinalysis
- proteinuria
- ACR
- microscopy, sensitivity and culture
- NO HAEMATURIA
2. bloods - ESR and CRP, LFTs (low protein), U&Es, low serum albumin
3. BP - high
4. USS kidneys
5. diagnostic = renal biopsy
52
how will minimal change disease present on renal biopsy/microscopy?
no abnormalities will be detected
53
management of nephrotic syndrome
a) non pharm
b) pharm
a) low salt diet, monitor urine protein and BP
b) - HIGH DOSE oral corticosteroids - prednisolone
- diuretics (reduce oedema)
- albumin infusions if severe hypoalbumin
54
steroid regime in paediatric nephrotic syndrome
high dose given for 4 weeks
then gradually weaned over 8 weeks
55
management of nephrotic syndrome in steroid-resistance children (2)
1. ACEis
2. immunosuppressants e.g. cyclosporine, tacrolimus, rituximab
56
complications of nephrotic syndrome (6)
1. hypovolemia
2. thrombosis (leak of antithrombin in urine)
3. infection (leak of immunoglobulins)
4. renal failure
5. frequent relapse
6. hypercholesteremia
57
medical migraine prophylaxis in children
a) 1st line
b) if contraindications
a) propranolol
b) contraindications e.g. asthma - use topiramate
58
what is congenital adrenal hyperplasia? (CAH) what is it characterised by?
autosomal recessive disorders where adrenal gland is too large > impaired adrenal steroid biosynthesis (lack of cortisol and aldosterone hormone)
59
which enzyme is deficient in congenital adrenal hyperplasia (CAH)? what does this cause?
21-hydroxylase
this is needed for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol so > lack of cortisol
60
pathophysiology of CAH - what hormonal dysfunction is caused?
1. deficiency in cortisol production (impaired conversion of 17-hydroxyprogesterone to 11-deoxycortisol)
2. compensatory overproduction of ACTH by the anterior pituitary
3. elevated ACTH increases production of adrenal androgens (male sex hormones)
4. causes virilisation (biological prod of adult male characteristics) in females
61
presentation of CAH in females
1. virilisation - ambiguous genitalia, clitoromegaly
2. precocious puberty
3. tall for age, facial hair, deep voice
4. primary amenorrhoea
5. infertility
62
presentation of CAH in males
1. appear normal at birth
2. precocious puberty
3. tall for age, deep voice
4. large penis, small testicles
5. infertility
63
what 'crisis' can occur in CAH? why? how does it present?
a) salt-wasting crisis
b) dysfunctional adrenal gland doesn't produce enough aldosterone > this is needed for regulating serum sodium > sodium is lost in urine
c) dehydration, vomiting, diarrhoea, hypotension, electrolyte imbalance
64
what electrolyte abnormalities are typically seen in CAH? (4)
hyponatremia and hyperkalemia
hypoglycemia
met. acidosis
65
diagnostic investigation and result in CAH
ACTH stimulation testing
- evaluates adrenal gland's response to ACTH
- abnormal increase in 17-hydroxyprogesterone (normally is converted to cortisol)
66
ddx for CAH (3)
- precocious puberty
- Addison's
- PCOS
67
management of CAH (3)
specialist paediatric endocrinologists > FU for growth and development
1. glucocorticoid replacement (hydrocortisone)
2. if mineralocorticoid deficient > fludrocortisone
3. females may need corrective surgery
68
complications of CAH (2)
1. infertility
2. salt-wasting crisis
69
what is Kallman's syndrome? what is it characterised by? what is its inheritance?
a) a genetic disorder causing DELAYED puberty
b) hypogonadotropic hypogonadism
c) x-linked recessive
70
pathophys of Kallman's syndrome
1. failure of GnRH-secreting neurons to migrate to the hypothalamus
2. no GnRH to stimulate LH and FSH release
3. low LH and FSH > no stimulation of sertoli/leydig cells/ ovaries to produce testosterone + inhibin/progesterone + oestrogen
4. SO low gonadotropins AND low sex hormones >> hypogonadotropic hypogonadism
71
RFs for Kallman's syndrome
family hx
72
signs and symptoms of Kallman's in boys - what is a key question stem?
key = boy with lack of smell (anosmia) and delayed puberty
1. delayed puberty
2. micropenis, cryptorchidism (dont descend)
3. anosmia
4. normal/above avg height
73
signs and symptoms of Kallman's syndrome in females
1. PRIMARY AMENORRHOEA
2. anosmia
3. delayed puberty
74
what birth defects are associated with Kallman's syndrome?
cleft lip/palate and visual/hearing defects
75
investigations and results for Kallman's syndrome
hormone testing
- LH/FSH low
- sex hormones e.g. testosterone low
76
management for Kallman's syndrome
a) males
b) females
a)
1. testosterone supplements
2. gonadotropin supplements (for later in life when fertility desired > sperm production)
b) progesterone and oestrogen
77
complication of Kallman's
infertility, psychosocial probs
78
which gender does androgen insensitivity syndrome occur in?
males (XY)
79
what is androgen insensitivity syndrome? what is it characterised by?
a genetic condition of end-organ resistance to testosterone, characterised by genotypically male children (XY) to have an external female phenotype
80
how is androgen insensitivity syndrome inherited?
x-linked recessive
81
describe how each organ presents in androgen insensitivity syndrome:
a) uterus
b) testes
c) vagina
a) absent uterus
b) undescended testes
c) short vagina
82
what causes androgen insensitivity syndrome?
mutation in the androgen receptor gene on the X chromosome
83
pathophysiology of androgen insensitivity syndrome
1. mutation in androgen receptor gene
2. cells unable to respond to androgen hormones (testosterone) due to lack of receptors
3. extra testosterone turns into oestrogen
4. typical male sexual characteristics don't develop
5. external female genitalia and breast tissue develop
6. testes in abdomen/inguinal canal produce anti-mullerian hormone > prevent internal female organs from developing
84
signs and symptoms of androgen insensitivity syndrome in infancy
inguinal hernias containing testes (on surgical repair of hernia surgeon will find testicles in a baby with external female genitalia)
85
signs and symptoms of androgen insensitivity syndrome at puberty
THINK lack of normal 'female' pubertal changes and a sprinkle of 'male' pubertal changes...
1. primary amenorrhoea
2. little/no axillary or pubic hair
3. facial hair
4. male type muscle development
86
what will be seen on vaginal examination in androgen insensitivity syndrome?
short vagina
87
investigations and results for androgen insensitivity syndrome (2)
1. HORMONE BLOODS
- raised LH
- normal/raised FSH
- normal/raised testosterone (for a male)
- raised oestrogen (for a male)
2. buccal smear/chromosomal analysis
- will show 46XY genotype
88
why is LH raised and FSH normal/raised in androgen insensitivity syndrome?
LH - lack of testosterone giving negative feedback to anterior pituitary to stop producing LH
FSH - is regulated by the hormone inhibin so is not as affected by the lack of testosterone -ve feedback
89
what genotype result would you get in androgen insensitivity syndrome?
46XY
90
management of androgen insensitivity syndrome (4)
1. counselling - often raised as girl
2. oestrogen replacement
3. bilateral orchiectomy
4. vaginal dilation/surgery - create adequate length
91
complications of androgen insensitivity syndrome
risk of testicular cancer (undescended testes)
92
most common location for urethral opening in hypospadias
ventral distal surface of penis
93
what is glomerulonephritis (nephritic syndrome)?
INFLAMMATION of the glomerular blood vessels
thinning of glomerular basement membrane, porous podocytes
94
when does nephritic syndrome occur in children?
what is the most common cause worldwide?
- 2-15 years old
- IgA nephropathy
95
causes of nephritic syndrome (3)
1. IgA nephropathy
2. post-streptococcal glomerulonephritis
3. Henoch-Schonlein purpura (HSP)
96
what age does IgA nephropathy usually present?
teens/young adults
97
RF for post-strep glomerulonephritis/IgA nephropathy
recent upper resp infection
98
pathophys of IgA nephropathy
1. abnormal IgA form
2. deposits of IgA immune complexes in mesangium of kidneys
3. then attacked by autoantibodies
4. inflammation and damage
99
pathophys of henoch-schonlein pupura
1. IgA mediated vasculitis
2. inflammation of small vessels in kidneys
100
GENERAL key features of nephritic syndrome/glomerulonephritis (4)
1. HAEMATURIA (macro or micro)
2. oedema (less than nephrotic)
3. HTN
4. oligouria (<300mls/day)
101
features of nephritic syndrome suggestive of IgA nephropathy cause
1. developing 1-2 DAYS following URTI
2. young males
3. macroscopic haematuria
4. renal failure unusual
102
features of nephritic syndrome suggestive of post-streptococcal glomerulonephritis cause
1. developing 1-2 WEEKS after URTI
2. low complement
103
features of nephritic syndrome suggestive of Henoch-Schnolein purpura cause
nephritic sx PLUS
1. palpable purpura on buttocks/arms/legs
2. abdominal pain
3. polyarthritis
4. haematuria, renal damage
104
gold std investigation for nephritic syndrome and results
1. urinalysis
- haematuria
- red cell casts
- no/little protein
105
management of henloch-schonlein purpura
- usually self-limiting (if no renal involvement)
- analgesia for arthralgia
- monitor BP and urinalysis
106
management of post-strep glomerulonephritis
- supportive
- consider antihypertensives/diuretics if complications
107
management of IgA nephropathy
- supportive tx of renal failure
- prednisolone and cyclophosphamide (immunosuppressants)
108
complications of nephritic syndrome (4)
1. AKI
2. uncontrolled HTN
3. hyperkalaemia
4. hypovolemic crisis
109
which type of PKD is presents in neonates?
autosomal recessive PKD (ARPKD)
110
cause of ARPKD - which gene and which chromosome?
mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6
111
pathophys of ARPKD
what is the result in the neonate?
1. PKHD1 gene codes for fibrocystin/polyductin protein complex (FPC)
2. this is responsible for the creation of tubules and maintenance of healthy epithelial cells in the kidney, liver and pancreas
3. causes
- cystic enlargement of renal collecting ducts
- oligohydramnios
- pulmonary hypoplasia
- Potter syndrome
- congenital liver fibrosis
112
how may ARPKD be detected antenatally? what will the results be?
picked up on antenatal USS scan - oligohydramnios, polycystic kidneys
113
presentation of ARPKD in newborns
1. potter syndrome - undeveloped ear cartilage, low set ears, flat nasal bridge, skeletal abnormalities
2. pulmonary hypoplasia (resp failure)
114
presentation of ARPKD in children
1/3 pts will not survive past neonatal period, but those that do will have end-stage renal failure in childhood
115
investigations for ARPKD
1. most diagnosed from antental USS scans
2. in childhood can do renal biopsy - multiple lesions
116
management of ARPKD
- renal dialysis in first few days of life
- extensive MDT interventions
117
complications of ARPKD
1. 1/3 will die in neonatal period
2. liver failure (fibrosis)
3. oesophageal varices
4. progressive renal failure
5. HTN
6. chronic lung disease
118
congenital and acquired causes of GH deficiency
CONGENITAL
- genetic mutation
- structural brain malformation
ACQUIRED
- hypothalamic pituitary tumour
- cranial radiotherapy (e.g. for brain tumour)
- TBI
- CNS infection
- TB
119
which gland produces growth hormone?
pituitary gland
120
pathophysiology of GH deficiency
1. hypothalamus secretes GHRH (growth hormone releasing hormone)
2. stimulates release of GH from anterior pituitary gland (this is dysfunctional)
3. GH is responsible for stimulating cell production, growth of organs/muscles/bones, stimulating release of IGF-1 from liver
121
features of GH deficiency at birth (2)
1. micropenis in males
2. hypoglycemia and/or severe jaundice
122
features of GH deficiency in older infants/children (4)
1. POOR GROWTH
2. short stature
3. slow development of movement and strength
4. DELAYED PUBERTY
123
main investigation for GH deficiency and its result
growth hormone stimulation/provocation test
GH is measured after insulin/glucagon/clonidine/arginine administered
in GH deficiency there will be poor response
124
other investigations for GH deficiency (4)
1. wrist xray - determines bone age and predicts final height
2. test for other deficiencies e.g. adrenal/thyroid
3. MRI brain - structural pituitary/hypothalamus probs
4. genetic testing for Turner's, Prader-Willi
125
ddx for GH deficiency (4)
1. hypothyroidism
2. small for gest age
3. constitutional delay in growth
4. Turner's
126
management of GH deficiency
managed and FU by paediatric endocrinologist...
1. daily subcut injections of Somatropin (GH)
2. tx for other deficiencies
3. monitor height and development
127
simple vs complex febrile seizure
SIMPLE
<15 minutes
generalised
no recurrence within 24h
complete recovery within an hour
COMPLEX
15-30 mins
focal seizure
repeat seizures within 24h
not recovering within an hour
128
how long does a seizure last in febrile status epilepticus
> 30 minutes
129
what 2 things should prompt a paediatrics admission/referral in a child with a febrile seizure?
1. first seizure
2. complex seizure
