PAEDS 4: Upper GI, Lower GI, Inflammatory, Other, Endo Flashcards
What is GORD?
Inappropriate relaxation of lower oesophageal sphincter
Most resolve by 12m of age (functional immaturity before then)
However if persistent = GOR disease
How might GORD in a child present?
vomiting, refusal to feed/irritability, aspiration chronic cough or wheeze, slow weight gain
important to check onset, duration, feeding behaviour (e.g. positioning), growth
How is GORD investigated?
Clinical diagnosis
Maybe consider: 24h LOS pH monitoring, OGD if very serious and no idea what’s going on but unlikely to do anything invasive for this
How is GORD in a child managed?
Reassure (common condition) - may be less frequent with time, resolves by 12m
If breastfed:
1st line = breastfeeding assessment
2nd line = consider trial of alginate therapy for 1-2w
3rd line = 4w PPI/H2 antagonist trial e.g. omeprazole/ranitidine
If formula-fed:
1st line = review feeding hx
2nd line = trial smaller, more frequent feeds (150-180mL/kg/day)
3rd line = trial of thickened formula e.g. w/rice starch (enfamil, carabel)
4th line = trial of alginate
5th line = 4w PPI/H2 antagonist
When should referral to a paediatrician be made with a child presenting with GORD?
RED FLAGS for same day referral = haematemesis, melaena, dysphagia
CONCERNING FEATURES = faltering growth, unexplained distress, no response to medical therapies, unexplained IDA
COMPLICATIONS = recurrent aspiration pneumonia, dental erosion, unexplained apnoea, recurrent acute otitis media
What is pyloric stenosis?
Hypertrophy of pyloric muscle leads to gastric outlet obstruction
Presents age 2-8 weeks
M:F (4:1)
How does pyloric stenosis present?
Non-bilious projectile vomiting
What investigations are done for pyloric stenosis?
BEDSIDE: examination = palpable mass in RUQ, visible perisistalsis in upper abdomen
BLOODS: hypochloraemic hypokalaemic metabolic acidosis
IMAGING: USS shows target sign
How is pyloric stenosis managed?
Fluid resuscitation
Surgery: laparoscopic Ramstedt pyloromyotomy
What is biliary atresia?
Progressive fibrosis and obliteration of extra- and intra-hepatic ducts leading to chronic liver failure within 2 years
Very rare: <50 cases/yr in UK
How might biliary atresia present?
HISTORY: skin changes (jaundice), stool and urine colours, dehydration, changes in weight or growth
SIGNS: obstructive jaundice (pale stool, dark urine), jaundice, hepatosplenomegaly, faltering growth
What investigations should be done for biliary atresia?
BEDSIDE: examination, obs
BLOODS: LFTs, clotting
IMAGING: USS (first line - triangular cord sign), Scintigraphy (Technetium-99), Intraoperative cholangiography/ERCP + biopsy (gold standard)
How is biliary atresia managed?
Kasai hepatoportoenterostomy
What is oesophageal atresia?
Different types of malformation:
OA = malformation of oesophagus so it doesn’t connect to stomach
TOF = tracheoesophageal fistula - part of oesophagus joined to trachea
- Type C most common
- stomach acid can regurgitate and go into lungs causing CLD/BPD
What is oesophageal atresia assoc. with?
polyhydramnios (no swallow), other developmental issues
How might oesophageal atresia present?
- excessive drooling
- choking
- failure to swallow or pass an NG tube
HISTORY: pregnancy issues e.g. larger measurements, VACTERL association (vertebral defects, anal atresia, cardiac defects, TOF, renal malformation, limb defects)
How is oesophageal atresia investigated?
Prenatal USS
NG tube placement +/- aspirate
Gastrogaffin swallow = gold standard
How is oesophageal atresia managed?
Surgical repair - NICU for I&V (intubation and ventilation)
- before: replogle tube (drain saliva from oesophagus)
What is intussusception?
Invagination of proximal bowel into distal component
95% ileum through to caecum through ileocaecal valve
Age 3 months to 2 years
What are risk factors for intussusception?
Gastroenteritis (viral illness enlarging Peyer’s patches), HSP, CF
How does intussusception present?
Abdominal pain, vomit (may be bile stained), red-currant jelly stool (late sign), abdominal distension (+ sausage shaped mass RUQ)
How is intussusception managed?
1st line = abdominal USS (target mass)
Alternative = barium (or gastrograffin) enema
How is intussusception managed?
Drip and suck:
1st line = rectal air insufflation (otherwise barium/gastrograffin enema)
2nd line (perforation) = surgical reduction w/broad-spectrum abx
What would you do if a child has recurrent intussusception?
Consider investigating for a lead point e.g. Meckel’s diverticulum
What is malrotation?
Congenital condition in which intestines do not (fully) rotate and fixate in mesentery as usually expected.
What can malrotation lead to?
Volvulus - bowel twisting and causing obstruction
What is malrotation associated with?
exomphalos, congenital diaphragmatic hernia
How does malrotation present?
Abdominal pain and peritonism
Vomiting (bilious)
Bloody stools
How is malrotation investigated?
Upper GI contrast study (assess patency)
USS
How is malrotation managed?
Urgent laparotomy (Ladd’s procedure)
= untwist volvulus, remove necrotic bowel and place bowel in non-rotation position
What is Hirschsprung’s Disease?
Absence of ganglion cells from the myenteric (Auerbach) and submucosal (Meissner’s) plexuses
Begins at the rectum and spreads proximally for a variable distance (75% rectosigmoid), ending at normally innervated, dilated colon
What are RFs for Hirschsprung’s Disease?
Down’s
MEN2a
Del(chr10)
Male
How does Hirschsprung’s disease present?
Failure to pass meconium <24hrs
Abdo distension
Bilious vomiting
Explosive passage of liquid/foul stools
NOTE: may present later in life w/life-threatening Hirschsprung enterocolitis (C. diff)
How is Hirschsprung’s disease investigated?
- AXR (if obstruction)
- Contrast (barium) enema = dilated distal segment + narrowed proximal segment
- Definitive = suction-assisted full-thickness rectal biopsy showing absence of ganglion cells, ACh +ve nerve trunks
How is Hirschsprung’s Disease managed?
Initial Mx = bowel irrigation
Followed by = endorectal pull-through (colostomy followed by anastomosing normally innervated bowel)
What is Meconium Ileus?
Thick sticky meconium that has a prolonged passing time
Meconium usually passes within 24hrs of delivery, if not, there may be an ileus
What is meconium ileus assoc. with?
CF, biliary atresia
How does meconium ileus present?
child may vomit meconium instead of passing it as stool
How is meconium ileus managed?
abdo exam, heel prick test for CF
How is meconium ileus managed?
1st line = gastrografin enema (N-acetylcysteine can also be used)
2nd line = surgery
What is Meckel’s diverticulum?
Ileal remnant of vitello-intestinal duct containing ectopic gastric mucosa (i.e. can form gastric ulcers that bleed) or pancreatic tissue
How does meckel’s diverticulum present?
Mostly asx
Painless massive PR bleeding
May present w/intussusception, volvulus or diverticulitis
How is meckel’s diverticulum investigated?
Technetium scan (increased uptake by gastric mucosa)
Abdominal USS +/- laparoscopy
How is meckel’s diverticulum treated?
Only treat if symptomatic
BLEEDING = excision (w/blood transfusion if needed)
OBSTRUCTION = excision of diverticulum and lysis of adhesions
PERFORATION/PERITONITIS = excision or small bowel segmental resection w/perioperative antibiotics
What is a hernia? What are some different types?
Hernia = a bulging of an organ or tissue through an abnormal opening
TYPES = indirect inguinal, umbilical, epigastric, femoral
What are some questions to ask in a question about a hernia?
- duration of bulge/lump
- always vs positional/straining etc.
- does it retract alone or can they push it back in
- any pain
- constipation
How are inguinal hernias investigated?
Clinical Diagnosis
EXAMINATION:
- painful vs painless
- cough impulse
- reducible (if not: incarceration)
- auscultation (?bowel sounds)
ESTABLISH DIRECT VS INDIRECT:
1. Locate deep inguinal ring (midway between ASIS and pubic tubercle)
2. Manually reduce hernia
3. Apply pressure over the deep inguinal ring and ask the patient to cough.
If reappears = direct, if not = indirect
What is the different between a direct and indirect inguinal hernia?
Direct inguinal hernia = protrusion of abdominal or pelvic contents directly through the posterior wall of the inguinal canal
Indirect inguinal hernia = protrusion of abdominal or pelvic contents into the inguinal canal through the deep inguinal ring
How are inguinal hernias managed?
INCARCERATED = emergency surgery
NON-INCARCERATED = elective repair (open or laparoscopic)
How are femoral hernias investigated?
Clinical diagnosis
Compared to inguinal hernia:
- femoral = infero-lateral to pubic tubercle
- inguinal = supero-medial to pubic tubercle
How are femoral hernias managed?
Surgical management for all of the due to high risk of incarceration
How are umbilical hernias investigated and managed?
IX = clinical diagnosis
INCARCERATION = attempt reduction and surgical repair
NON-INCARCERATED =
- large or symptomatic: elective surgical repair (age 2-3yrs)
- small and asx: most self-resolve by age 5. If have not resolved, may consider elective repair
What are risk factors for constipation in children?
Low fibre, poor diet, infection, stress/emotional abuse
What questions should be asked in a history for constipation in a child?
- Rule out underlying. conditions e.g. hypothyroidism, CF
- Rule out red flags e.g. blood in stool
- diet and lifestyle
- home and school life
How should constipation be investigated?
Clinical diagnosis
AXR for impaction
How is constipation in children managed?
DISIMPACTION REGIME:
1. Movicol Paediatric Plain (polyethylene glycol + electrolyte) escalating dose for 2 weeks
2. Add a stimulant laxative (e.g. senna or sodium picosulphate)
NOTE: if movicol not tolerated try stimulant laxative + lactulose/docusate
MAINTENANCE REGIME:
- movicol w/ or w/o stimulant laxative
- dose reduced over period of months
LIFESTYLE & BEHAVIOUR:
- advise behavioural interventions (scheduled toileting, bowel habit diary, reward system)
- diet and lifestyle advice (adequate fluid intake)
What are the different types of laxatives?
Bulk-forming = fybogel, methylcellulose
Osmotic = lactulose, movicol
Stimulant = bisacodyl, senna, sodium picosulphate
Stool softeners = arachis oil, docusate sodium
What is Crohn’s disease?
Affects any part of GI tract mouth to anus
Transmural inflammation most commonly affecting distal ileum and proximal colon
How does Crohn’s disease present?
- abdo pain, diarrhoea, weight loss
- fever, lethargy
- aphthous ulcers, perianal skin tags
- growth failure, delayed puberty
- uveitis, arthralgia, erythema nodosum
- complications: strictures and fistulae
How is Crohn’s disease investigated?
BEDSIDE: Abdo exam, assess impact on daily functioning, risk of osteoporosis
BLOODS: faecal calprotectin, FBC (iron, B12, folate), CRP, ESR
IMAGING: upper GI and small bowel contrast scan, colonoscopy and biopsy (cobblestones, non-caseating granulomas)
How is Crohn’s disease managed?
INDUCE REMISSION:
- pharmacological mx = steroids (prednisolone)
- nutritional mx = replace diet w/whole protein modular diet (excessively liquid 6-8w), may need NG if child struggles to drink that amount, products easily digested, provide all nutrients needed to replace weight loss
MAINTAINING REMISSION:
- aminosalicylates (e.g. mesalazine)
- immunosuppressive drugs (azathioprine, methotrexate, mercaptopurine): no live vaccines but need pneumococcal + flu vaccine
- anti-TNF antibodies in biologic therapies (e.g. infliximab)
MONITORING: ferritin, B12, calcium and vitamins
COMPLICATIONS: Consider surgery for complications e.g. obstruction, fistula, abscess, severe localised disease
SUPPORT: Crohn’s and Colitis UK info and leaflets
What is Ulcerative Colitis?
Partial thickness inflammation, distal to proximal pattern, crypt damage and ulceration
What is ulcerative colitis associated with?
PSC, toxic megacolon, enteric arthritis, haemorrhage, bowel cancer
How does ulcerative colitis present?
- rectal bleeding, diarrhoea, abdominal pain
- weight loss and growth failure
- erythema nodosum, arthritis
How is ulcerative colitis investigated?
Same ix as Crohn’s disease
IMAGING: endoscopy (confluent colitis extending from rectum proximally, histology = mucosal inflammation/ulceration, crypt damage)
GRADING SEVERITY:
- Paediatric Ulcerative Colitis Activity Index (PUCAI) - be aware of coexistent depression
- Truelove and Witts Score
How is ulcerative colitis managed?
1st LINE = topical aminosalicylates
- used to maintain remission
- no improvement in 4w, move to oral, then to 2nd line
- can use oral azathioprine or mercaptopurine if aminosalicylates insufficient
2nd LINE = topical or oral corticosteroids if aminosalicylates not tolerated/contraindicated e.g. prednisolone, beclomethasone
3rd LINE = oral tacrolimus
4th LINE = biological agents (infliximab, adalimumab and golimumab)
5th LINE (resistant disease) = surgery (colectomy w/ileostomy or ileojejunal pouch)
MEDICAL EDUCATION: UC assoc. w/ increased risk of bowel cancer, regular screening performed after 10yrs of diagnosis
SUPPORT: Crohn’s and Colitis UK
How is severe fulminating disease in UC managed?
EMERGENCY
MDT approach
IV corticosteroids or ciclosporin and assess likelihood of needing surgery
- >8 stools/day
- pyrexia
- tachycardia
- AXR w/colonic dilatation
- low alb, Hb
- high PLTs or CRP
Consider IV cicosplorin (if IV corticosteroids contraindicated or ineffective)
What is Coeliac Disease?
- autoimmunity to gliadin (in gluten, wheat, barley and rye, shorter villi and flat mucosa)
- common
- HLA-DQ2 (95%) and DQ8 (80%) association
How does coeliac disease present?
- malabsorption syndrome = failure to thrive, abdo distension, bloating, irritability
- malnutrition = wasted buttocks, distended abdo
- dermatitis herpetiformis (itchy papulovesicular rash on elbows or knee)
How is coeliac disease investigated?
Serological diagnosis:
- IgA anti-TTG = most sensitive
- IgA anti-endomysial cell antibodies = less sensitive
NOTE: if IgA deficient use IgG DGP
BLOODS: FBC, blood smear (IDA, vit B12/folate deficiency, vit D)
Confirm diagnosis via grading w/’Marsh’ system (for adults + older children) = OGD + jejunal biopsy (villous atrophy, crypt hyperplasia, increased IELs)
How is coeliac disease managed?
DIET: remove all products containing wheat, rye and barley
MDT: dietician, child psychologist, school involvement, GP, gastroenterologist
Dietician referral if problems adhering to diet
REVIEW: annual (6-12m) reviews checking height + weight, r/v sx, diet, consider bloods
SUPPORT: Coeliac UK
What can non-adherence to dietary management of coeliac disease lead to?
- micronutrient deficiency
- osteoporosis
- EATL (enteropathy-associated T lymphoma)
- hyposplenism
What is Cow’s milk protein allergy?
IgE mediated or delayed reaction to cow’s milk protein
Usually presents in first 3m of life in formula-fed children
Breastfed infants can still get a reaction from proteins that mother eats passing to breast milk
How does cow’s milk protein allergy present?
“3m old baby that vomits and has diarrhoea after every
IgE mediated = urticaria, angioedema, rash, erythema, N&V, diarrhoea, abdo pain, sneezing, anaphylaxis, wheezing etc.
Non-IgE mediated = erythema, atopic eczema, GORD, change in frequency of stools, blood/mucus in stools, abdominal pain, FTT, infantile colic, constipation, food aversion, pallor
How is cow’s milk protein allergy investigated?
- Skin prick allergy testing OR
- measurement of specific IgE antibodies (RAST)
Referral to specialist if:
- faltering growth with >1 GI sx of allergy
- >1 acute systemic or severe delayed reactions
- severe atopic eczema
- persisting suspicion
- multiple allergies
How is cow’s milk protein allergy managed?
Referral if indicated, otherwise:
1st LINE = trial cows’ milk elimination for 2-6w
- breastfed = mum to exclude cow’s milk protein from diet (consider 1g Ca and 10mcg vit D supplementation) (2-3w for cow’s milk to be fully eliminated from breastmilk)
- formula-fed = hypoallergenic infant formula (e.g. extensively hydrolysed or amino acid formula if severe)
- weaned/older child = exclude cows milk protein from their diet
2nd = monitor growth, nutritional counselling w/paediatric dietician
3rd = re-evaluate tolerance to cow’s milk protein every 6-12m
- reintroduce, if tolerance established use milk ladder to gradually increase exposure to less processed milk
What is appendicitis?
Most common cause of abdo pain in childhood (rare if <3yo)
Faecolith (stony mass of compacted faeces) more common in pre-school children and perforation more common
How does appendicitis present?
- anorexia, N&V
- umbilical to RIF pain
- fever, tenderness etc.
How is appendicitis investigated?
BEDSIDE: clinical diagnosis, watchful waiting observation + examination
BLOODS: FBC, pregnancy test if female, CRP
IMAGING: consider USS if diagnostic uncertainty
How is appendicitis managed?
GAME:
G = group and save
A = antibiotics, IV
M = MRSA screen
E = no Eating, must be NBM
Surgery = appendectomy (definitive mx)
What is mesenteric adenitis?
Mainly in children <15yo after a recent viral/bacterial infection (inc. UTIs)
Common cause of abdominal pain
How does mesenteric adenitis present?
abdominal pain - central or RIF
may have nausea +/- diarrhoea
decreased appetite
How is mesenteric adenitis investigated?
Clinical diagnosis
Bloods to exclude appendicitis (bloods, urine MC&S, USS)
Large mesenteric lymph nodes seen at laparoscopy (w/normal appendix) = definitive Ix but never done
How is mesenteric adenitis managed?
Simple analgesia (sx usually resolve in a few days, max. 2w)
Safety net for increased pain or deterioration
What is necrotising enterocolitis?
Most common surgical emergency in newborn babies - tends to affect premature babies and LBW
Immature/fragile bowels leads to poor blood flow and infection of intestines
Often begins after starting enteral feeding
How does necrotising enterocolitis present?
Early Sx = biliary vomiting, feed intolerance
Abdo distension
Blood-stained stool
Rapid deterioration and shock
How is necrotising enterocolitis investigated?
BLOODS: blood cultures
IMAGING: AXR - ‘gas cysts’ in bowel wall, distended loops, thickened walls
How is necrotising enterocolitis managed?
Bowel rest - switch to parenteral nutrition and stop oral feed
Broad-spectrum antibiotics - cefotaxime/tazocin and vancomycin
- stage IA/IB = 3/7d
- stage IIA = 7-10d
- stage IIB, III = 14d
Laparotomy if perforation
What are long term consequences of necrotising enterocolitis?
20% mortality/morbidity acutely
development of strictures
malabsorption (if extensive bowel resection is necessary)
What are threadworms?
Infect bowel, lay eggs near rectum, itchiness, scratching leads to contamination of fingers, transmission
How do threadworms present?
itchiness in anal/perianal region
How are threadworms investigated?
Clinical diagnosis
Stool sample (ova, cysts, parasites)
How are threadworms managed?
Single dose mebendazole for whole household
- repeat after 2w if persistent sx
- rigorous hygiene for 2w if on mebendazole or 6w if hygiene measures alone (handwashing, cutting fingernails, showering everyday, changing bedding + nightwear, dust and vacuum)
- NO exclusion from school
- <6m treat w/just hygiene for 6w
What is Toddler’s Diarrhoea?
chronic and non-specific diarrhoea
commonest cause of loose stools in preschool kids
underlying maturational delay in intestinal mobility - increased intestinal hurry (not malabsorption)
How does toddler’s diarrhoea present?
- varying consistency stools (well-formed to explosive and loose +/- presence of undigested veg)
- child well and thriving w/no precipitating dietary factors and normal examination)
How is toddler’s diarrhoea investigated and managed?
Clinical diagnosis
Mx = reassurance, safety net on red flags
What is infantile colic?
Common symptom complex in infants that generally resolves by 3-12 months
How does infantile colic present?
Manifests as random inconsolable crying and drawing up of hands and feet
How is infantile colic investigated and managed?
Clinical diagnosis
Mx = reassurance and safety net on red flags
What is puberty determined by for females and males?
Females = breast development (Tanner’s 5 breast development stages)
Males = testicular development >4mL (Prader’s orchidometer)
At what age would a child be classed as having undergone precocious puberty?
Girls = age <8yo
Boys = age <9yo
What are the 3 big overarching causes of precocious puberty?
- Gonadotrophin-dependent precocious puberty (GDPP)
- Gonadotrophin-independent precocious puberty (GIPP) - 20% of PP
- Benign isolated precocious puberty (generally self-limiting)
What are the GDPP causes?
- premature activation of HPG axis
- idiopathic
- CNS abnormalities (tumours, trauma, central congenital disorders)
What are the GIPP causes?
Early puberty from increased gonadal activation dependent of HPG
OVARIAN = follicular cyst, granulosa cell tumour, Leydig cell tumour, gonadoblastoma
TESTICULAR = Leydig cell tumour, testotoxicosis (familial, defective LH-R function)
ADRENAL = congenital adrenal hyperplasia, Cushing’s
TUMOURS = b-hCG secreting tumour of liver, ovary, testes, adrenal
McCune-Albright syndrome = multiple endocrinopathy of thyrotoxicosis, Cushing’s, acromegaly (S/S = polyostotic fibrous dysplasia, cafe-au-lait spots, ovarian cysts)
EXOGENOUS HORMONES = COCP, testosterone gels
What are causes of benign isolated precocious puberty?
PREMATURE THELARCHE = isolated breast development before 8yo, from maternal oestrogen
- Sx = absence of other pubertal signs, normal growth, normal USS of uterus, rarely progress past Tanner stage 3
PREMATURE PUBARCHE/ADRENARCHE = isolated pubic hair development before 8yo in girls or 9yo in boys
- early adrenal androgen secretion in middle childhood
- more common Asian/Afro-Caribbean
PREMATURE MENARCHE = isolated vaginal bleeding before 8yo
How is precocious puberty investigated?
GOLD STANDARD = GnRH stimulation test
- FSH, LH low = GIPP
- FSH, LH high = GDPP
Wrist XR (non-dominant) for skeletal age
General hormone profile (basal LH/FSH, serum testosterone and oestrogen)
Urinary 17-OH progesterone if CAH suspected
FEMALES = not normally of concern
- pelvic USS
- premature onset of normal puberty: multicystic ovaries and enlarging uterus
- r/o gonadal tumour, cysts
MALES = most commonly organic cause
- Prader’s orchidometer measurement and testes exam (bilateral enlargement = GDPP ?intracranial lesion, MRI; unilateral enlargement = gonadal tumour; small = tumour or CAH)
How is precocious puberty managed?
Refer to paediatric endocrinologist
If GDPP w/no underlying pathology = no treatment required
GDPP
- GnRH agonist (e.g. leuprolide) + GH therapy
- DnHR agonist + cryproterone (anti-androgen)
GIPP
McCune Albright or Testotoxicosis
- 1st line = ketoconazole or cyproterone
- 2nd line = aromatase inhibitors
CAH: hydrocortisone + GnRH agonist
What is adrenal insufficiency/congenital adrenal hyperplasia?
Most common non-iatrogenic cause of low cortisol
Multiple forms of CAH - most common = 21-hydroxylase deficiency
Autosomal recessive
How does adrenal insufficiency/CAH present?
- Virilisation of external genitalia (F = clitoromegaly, fusion of labia, M = enlarged genitals, pigmented scrotum)
- Salt-losing crisis (often 1st sign in M) = vomiting, weight loss, hypotonia, circulatory collapse
- Tall stature
- excess androgens = muscular build, adult body odour, pubic hair, acne
How is adrenal insufficiency/CAH investigated?
Initial Ix for ambiguous genitalia, no external gonads = USS to examine internal genitalia
Confirmatory for CAH = raised plasma 17a-hydroxyprogesterone (unable to do in newborn)
- for newborn 1st Ix = USS
Biochemical abnormalities in FBC:
- salt-losing crisis = low Na+, high K+
- metabolic acidosis = low bicarb
- hypoglycaemia (low glucose from low cortisol)
Other confirming tests = karyotyping, high urea (dehydrated), b-hCG
Why are the different types of adrenal insufficiency/CAH?
- 5-alpha-reductase deficiency
- androgen insensitivity syndrome
- 21-hydroxylase deficiency (CAH)
- 17-alpha-hydroxylase deficiency (CAH)
How does 5-alpha reductase deficiency present?
ambiguous genitalia but internal male organs present, XY genotypes, increased testosterone at puberty virilising so get “penis-at-12” syndrome
How does androgen insensitivity syndrome present?
feminisation, no internal male or female organs, XY genotype
How does 21-hydroxylase deficiency present?
ambiguous genitalia, salt losing crisis, XX genotype
How does 17-alpha-hydroxylase deficiency present?
feminisation, hypertensive, XY genotype
How is adrenal insufficiency/CAH managed?
Corrective surgery = for affected females on the external genitalia
- F are raised as F
- definitive surgery often delayed until early puberty
Long-term Mx
- lifelong glucocorticoids (hydrocortisone) to suppress ACTH + testosterone
- mineralocorticoids (fludrocortisone) if salt loss
- monitor growth, skeletal maturity, plasma androgens and 17-alpha-hydroxyprogesterone levels
- additional hormone replacement at times of illness or surgery i.e. double hydrocortisone
Salt-losing crisis = IV hydrocortisone, IV saline, IV dextrose
What is androgen insufficiency syndrome?
Delayed puberty in a ‘girl’ w/bilateral groin swellings (undescended testes)
Genotype = XY, phenotype = XX
Can be complete or partial:
- COMPLETE = testosterone no effect, genitals entirely female
- PARTIAL = testosterone has some effect, genitals more ambiguous
How does androgen insufficiency syndrome present?
- ambiguous genitalia from birth
- undescended testes
- often diagnosed at puberty (girl w/CAIS will develop breasts, may be slightly taller than usual, not have periods, little to no pubic hair)
How is androgen insufficiency syndrome investigated?
BEDSIDE = abdo exam, external genitalia exam
BLOODS = oestrogen/progesterone, testosterone
SPECIAL TESTS = karyotype
How is androgen insufficiency syndrome managed?
-MDT approach
- Counselling
- Surgery e.g. removing undescended testicles, vaginal dilatation, breast reduction etc.
- Hormone replacement e.g. encouraging puberty, preventing menopausal sx and osteoporosis (if testicles removed)
What is growth hormone deficiency?
- variety of mutations exist, some sporadic and some familial
- rare
How does growth hormone deficiency present?
short stature, poor growth, absent growth spurt/delayed puberty
How is growth hormone deficiency investigated?
BEDSIDE: Examination (plot growth chart)
BLOODS: TFTs, IGF-1, baseline pituitary hormones
SPECIAL TEST: GH provocation test e.g. insulin, glucagon, arginine
IMAGING: Wrist XR for bone maturity
How is growth hormone deficiency managed?
GH replacement therapy
What is congenital hypothyroidism?
Assoc. w/irreversible neurological problems and poor growth if untreated
Number of causes:
- thyroid gland defects (most common) = not inherited
- disorder of thyroid hormone metabolism = inherited
- hypothalamic or pituitary dysfunction
- transient hypothyroidism due to maternal meds or antibodies
How does congenital hypothyroidism present?
- feeding difficulties, lethargy, constipation
- large fontanelles, myxoedema, nasal obstruction, low temp, jaundice, hypotonia, pleural effusion, short stature, oedema +/- goitre, +/- congenital defects
- unique sx = coarse features, macroglossia, umbilical hernia
How is congenital hypothyroidism investigated?
- high TSH, low T4
- measure thyroid autoantibodies +/- US or radionucleotide scan
How is congenital hypothyroidism managed?
Early detection + replacement
- levothyroxine OD, titrate dose to TFTs + regular monitoring
- monitor growth, developmental milestones
What is T1DM?
autoimmune destruction of beta cells of pancreas
assoc. w/HLA-DR and HLA-DQ
How does T1DM present?
Weight loss
Polyuria and polydipsia
Hyperglycaemia
Recent infections
Bedwetting
PMHx and FHx of autoimmunity
How is T1DM investigated?
- random plasma glucose >11.1
- 2h plasma glucose >11.1
- fasting plasma glucose >7
- HbA1c >48mmol/mol / >6.5%
How is T1DM managed?
MDT = paediatrician, PDSN, psychologist, school, GP
1st LINE = multiple daily injection basal-bolus
- injections of short-acting insulin before meals, w/1 or more separate daily injections of intermediate acting insulin or long acting insulin analogue
2nd LINE = continuous SC insulin infusion (insulin pump)
- programmable pump/insulin storage device that gives regular or continuous amounts of insulin (usually rapid-acting insulin or short-acting insulin)
EDUCATION:
- insulin injection method and sites
- blood glucose prick monitoring = >5 capillary blood glucose/day, ongoing monitoring for children w/frequent severe hypoglycaemia, impaired awareness, inability to recognise/relay sx of hypoglycaemia
- HbA1c checked 4x / yr
- healthy diet and exercise (DAFNE)
MONITORING:
- annually from 12yo for diabetic retinopathy, nephropathy and HTN
SAFETY NETTING: Sick day rules
- explain sx of DKA
- check blood ketones when ill or hyperglycaemic
- recognition and treatment of hypoglycaemia
What are the different types of insulin?
Long acting = glargine, determir
Short acting = lispro, glulisine, aspart
What are the BSPED guidelines for DKA?
DIAGNOSIS:
- BM >11.1
- ketones >3
- pH <7.3 or bicarb <15
SEVERITY:
- Mild = pH <7.3 = 5% fluid deficit
- Moderate = pH <7.2 = 7% fluid deficit
- Severe = pH <7.1 = 10% deficit
What should be monitored in a child w/DKA?
Monitoring every hour (30mins if severe DKA, or <2yo)
HOURLY = CBG, obs, fluid balance (input/output), GCS, ECG
2hrs, then 4hrs = glucose, U&Es, CBG, ketones
What are the rough steps to treating DKA?
- Emergency management A-E
- Fluid management
- Insulin/dextrose therapy after 1-2 hrs of IV fluid replacement
What is the emergency management of DKA?
ABCDE
Shocked = 20mL/kg bolus over 15 mins + 10mL/kg bolus if required w/max 40mL/kg
Not shocked = 10mL/kg bolus over 60 mins
Ix = blood glucose, FBC, U&Es, blood gas, ketones, full clinical assessment inc. GCS
What is the fluid management of DKA?
- DEFICIT = (deficit x weight x 10) - initial bolus if non-shocked - replace over 48hrs
- MAINTENANCE (remove initial bolus if not shocked)
- 1st 10kg = 100mL/kg/day
- 2nd 10kg = 50mL/kg/day
- every kg >20kg = +20mL/kg/day - ADDITIONAL ELECTROLYTES - ensure 20mmol KCl per 500mL saline (i.e. 40mmol per L), unless K+ raised
What is the insulin/dextrose therapy management of DKA?
Insulin dose = IV 0.05-0.1 units/kg/hr
- start dextrose when <14mmol/L
- change to SC insulin once resolving (30min before stopping IV)
- place on ECG monitor to identify hypokalaemia
What are potential complications of DKA?
- cerebral oedema (rx w/mannitol or hypertonic saline, restrict fluids)
- hypokalaemia (rx by stopping insulin temporary)
- thrombosis (rx w/heparin prophylaxis)
- aspiration pneumonia
- inadequate resuscitation
How is obesity in children classified?
Using centiles
OVERWEIGHT = 85-94th centile
OBESE = >95th centile
SEVERELY OBESE = 99th centile
What are RFs for obesity in children?
Low SES, poor diet, genetics, little exercise
How is obesity investigated?
BEDSIDE: growth chart plotting, nutritional assessment (triceps skinfold thickness)
BLOODS: cholesterol, triglyceride levels, endocrine assays
URINE: glucosuria, T2DM
RADIOLOGY: USS/CT/MRI head for specific conditions or syndromes
How is obesity managed?
CONSERVATIVE:
- self esteem and confidence building (early intervention is key)
- address lifestyle
THERAPEUTIC AIMS:
- reduce excess weight whilst not compromising growth
- dietary counselling
- behaviour modification (age-dependent approach)
- stepwise physical activity programme
- adherence to plan needs strong family support
NOTE: surgery not recommended in young people
