Paeds Endocrinology + Gastroenterology Flashcards

1
Q

name the three phases of growth

A
  1. infant
  2. childhood
  3. pubertal
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2
Q

name some causes for symmetrical SGA?

A

mother is small or chromosomal abnormalities

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3
Q

name some causes of asymmetrical SGA?

A

smoking, alcohol, drugs
placental issues (e.g. insufficiency)

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4
Q

name the two important hormones in growth

A

growth hormone and thyroid hormone

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5
Q

how can growth hormones deficiency present? in neonates and older children

A

neonates:
- micropenis
- hypoglycaemia
- severe jaundice

older infants:
- poor growth (slowing from age 2/3)
- short stature
- slow development of movement and strength
- delayed puberty

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6
Q

names the causes of short stature?

A

chronic disease e.g. coeliac
GH deficiency
skeletal dysplasia
syndromes e.g. turner, down, prader-willi
endocrine e.g. hypothyroidism, hypopituitarism, cushings
psychosocial e.g. child abuse (pituitary shuts down)

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7
Q

what Ix would be done to check for causes of short stature?

A
  1. growth hormone stimulation test -> stimulate growth hormone release by glucagon, insulin, arginine or clonidine and measure levels of GH.
  2. test for adrenal or thyroid deficiency
  3. MRI brain - structural pituitary or hypothalamus abnormalities
  4. genetic testing - prader-willi, turner
  5. xray - DEXA scan can determine bone age
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8
Q

Tx for growth hormone deficiency?

A
  • daily subcut injections of growth hormone (somatropin)
  • Tx of other hormone deficiencies
  • monitoring of height and development
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9
Q

how is congenital hypothyroidism screened for these days?

A

newborn blood spot screening test

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10
Q

what are teh features of congenital hypothyroidism?

A

Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development

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11
Q

ix for congenital hypothyroidism?

A

TFTs (TSH, T3, T4)
thyroid USS
thyroid antibodies

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12
Q

tx of congenital hypothyroidism?

A

levothyroxine

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13
Q

what is the most common cause of acquired hypothyroidism?

A

hashimoto’s (autoimmune thyroiditis)

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14
Q

what does the newborn blood spot screening test pick up?

A
  • phenylketonuria
  • congenital hypothyroidism
  • medium chain acyl-coA-dehydrogenase deficiency (MCADD)
  • sickle cell disease
  • cystic fibrosis
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15
Q

name some lfiestyle facttors that can cause constipation?

A
  • habitually not opening bowels
  • low fibre diet
  • poor fluid intake and dehydration
  • sedentary lfiestyle
  • psychosocial problems
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16
Q

secondary cuases of constipation in children?

A

hirschsprungs disease
cystic fibrosis (meconium ileus in particular)
hypothyroidism
spinal cord lesions
sexual abuse
intenstinal osbtruction
anal stenosis
cows milk intolerance

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17
Q

complications of constipation?

A
  • pain
  • reduced sensation
  • anal fissures
  • heamorrhoids
  • overflow an soiling
  • psychosocial morbidity
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18
Q

Mx of primary constipation?

A
  • treat reversible lifestyle factors
  • start laxatives (movicol first line)
  • faecal impaction may require disimpaction regimen with high doses of laxatives at first
  • bowel diary, star charts, encourage opening bowels
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19
Q

what is hirschsprungs disease?

A

birth defect in which some nerve cells are absent in distal bowel and rectum = obstruction in bowel

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20
Q

what other syndromes is hirschsprungs associated with?

A
  • downs syndrome
  • neurofibromatosis
  • waardenburg syndrome
  • multiple endocrine neoplasia type II
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21
Q

presentations of hirschsprungs disease?

A
  • delay in passing meconium (>24hrs)
  • chronic constipation since birth
  • abdo pain and distention
  • vomiting
  • poor weight gain and failure to thrive
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22
Q

what is hirschsprung associated enterocolitis?

A

inflammation and obstruction of intestine
presents 2-4 wks after birth with features of hisrchsprungs + fever +/- sepsis
can lead to toxic megacolon and bowel perforation

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23
Q

Tx of hirschsprung associated entercolitis?

A

abx
fluid resus
decompression of obstructed bowel

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24
Q

Ix for hirschsprungs disease?

A

AXR
rectal biopsy (gold standard) - look at bowel histology

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25
Q

Mx of hirschsprungs disease?

A
  • surgical removal of aganglionic section of bowel
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26
Q

presentation of coeliac disease in children?

A
  • failure to thrive
  • diarrhoea
  • fatigue
  • weight loss
  • mouth ulcers
  • anaemia secondary to b12, iron or folate deficiency
  • dermatitis herpetiformis
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27
Q

how is a diagnosis of coeliacs given.?

A

Ix to be carried out whilst pt is on a diet containing gluten

  1. check total immunoglobulin A levels to exclude IgA deficiency
  2. check for raised anti-TTG antibodies
  3. endoscopy and intestinal biopsy show crypt hypertrophy and villous atrophy
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28
Q

coeliacs tx?

A

gluten free diet

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29
Q

what is biliary atresia?

A

congenital condition where a section of the bile duct is either narrows or absent

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30
Q

how does biliary atresia present?

A

shortly after birth with jaundice (lasting longer than 14 days)

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31
Q

Mx of biliary atresia?

A
  • Kasai portoenterostomy surgery

= attaching section of small intestine to opening of liver where bile duct normally attaches
often pts will require liver transplant at some point in life to resolve condition

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32
Q

signs of GORD in children under 1yo?

A
  • chronic cough
  • hoarse cry
  • distress, crying or unsettled after feeding
  • reluctance to feed
  • pneumonia
  • poor weight gain
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33
Q

signs of GORD in children over 1yo?

A
  • heartburn
  • acid regurg
  • retrosternal or epigastric pain
  • bloating
  • nocturnal cough
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34
Q

Mx of GORD in children?

A
  • small frequent meals
  • burping regularly to help milk settle
  • not over feeding
  • keep baby upright after feeding

+/- gaviscon with feeds
+/- PPIs if nothing else works

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35
Q

what ix are done to diagnose GORD In children?

A

only investigate serious cases:
- barium meals
- endoscopy

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36
Q

what is pyloric stenosis?

A

congenital condition that cuases hypertrophy of the pylorus and obstruction

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37
Q

presentation of pyloric stenosis in a child?

A
  • presents 2-8 weeks
  • failing to thrive
  • projectile vomiting
  • hungry, thin baby
  • firm round mass felt in RUQ
  • blood gas shows hypochloric metabolic alkalosis
38
Q

how is a diagnosis of pyloric stenosis made?

A
  • abdo USS
39
Q

Tx of pyloric stenosis

A

laparoscopic pyloromyotomy - widen pylorus

40
Q

red flags in children who are vomiting

A
  • bile stained vomit (intestinal obstruction)
  • haemetemesis (oesophagitis, peptic ulceration)
  • projectile vomiting in first few wks of life (pyloric stenosis)
  • abdo distention (intestinal obstruction)
  • blood in stool (intussusception)
  • faltering growth (GORD, coeliac)
  • abdo tenderness/ppain on movement (surgical abdomen)
41
Q

name some causes of vomiting in children?

A
  • GORD
  • pyloric stenosis
  • hirschsprungs
  • gastroenteritis
  • food allergy
  • intussuscpetion
  • atresia
  • malrotation
  • volvulus
  • strangluates inguinal hernia
  • coeliacs
42
Q

red flags for abdo pain?

A
  • persistent or bilious vomiting
  • severe chronic diarrhoea
  • fever
  • rectal bleeding
  • weight loss or failure to thrive
  • dysphagia
  • nighttime pain
    = abdo tenderness
43
Q

signs and symptoms of appendicitis?

A
  • abdo pain (starts at umbilicus and moves to RIF)
  • tenderness at mcburneys point
  • loss of appetite (anorexia)
  • n+v
  • rovsings sign
  • rebound + percussion tenderness
  • fever
44
Q

how is appendicitis diagnosed?

A

clinical presentation and raised inflammatory markers
+ CT or USS

if nothing found on imaging then diagnostic laparosocpy performed

45
Q

key differentials for appendicitis?

A
  • ectopic
  • ovarian cysts
  • meckels diverticulum
  • mesenteric adenitis
  • appendix mass
46
Q

Mx of appendicits?

A

appendicectomy (laparascopically)

47
Q

what is intussusception?

A

when a portion of bowel telescopes into itselfs (usually the ileum into the caecum at ileocaecal valve)
typically occurs 6 months to 2yo

48
Q

presentation of a child with intussuception?

A
  • severe colicky abdo pain
  • pale, lethergic and unwell
  • recurrant jelly stool
  • RUQ mass on palpation (sausage shaped)
  • vomiting
  • intestinal obstruction
49
Q

Ix for intussusception?

A
  • USS or contrast enema
50
Q

Tx for intussusception?

A

air enema
(if peritonitic then surgical resection needeD)

51
Q

complications of intussusception

A
  • obstruction
  • gangrenous bowel
  • perforation
  • death
52
Q

what is meckels diverticulum?

A

ileal remnant of the vitello-intestinal duct that contains ectopic gastric mucosa or pancreatic tissue

53
Q

Ix for meckel’s diverticulum?

A

technetium scan > shows increased uptake by ectopic gastric mucosa

54
Q

Tx fro meckels diverticulum

A

surgical resection

55
Q

how does malrotation present in a child?

A

bilious vomiting in first few days of life
(dark green vomiting)

56
Q

Ix to diagnose malrotation?

A

urgent upper GI contrast (if signs of vascular compromise then urgent laparotomy)

57
Q

tx for malrotation

A

surgical correction

58
Q

causes of intestinal obstruction?

A
  • meconium ileus
  • hirschsprungs disease
  • oesophageal atresia
  • duodenal atresia
  • intussusception
  • imperforate anus
  • malrotation of intestines with volvulus
  • strangulated hernia
59
Q

presentation od a child with intestinal obstruction

A

persistent vomiting (may be bilious)
abdo pain and distention
failure to pass stools or win s
abnormal bowel sounds (high pitched, tinkling or absent)

60
Q

Ix for a child with intestinal obstruction

A
  • AXR > shows dilated loops of bowel proximal to obstruction and collapsed bowel distal to obstruction + absence of air in rectum
61
Q

Mx of intestinal obstruction

A

NBM and insert nasogastric tube
IV fluids
await definitive Mx for underlying ccause

62
Q

signs of symptoms of a child with IBD?

A
  • diarrhoea
  • abdo pain
  • rectal bleeding
  • weight loss
  • anaemia
  • during flares > fevers, malaise, dehydration
63
Q

name some extra-intestinal manifestations of IBD?

A
  • finger clubbing
  • erythema nodosum
  • pyoderma gangrenosum
  • episcleritis and iritis
  • inflammatory arthritis
  • primary sclerosing cholangitis
64
Q

how to test for IBD?

A
  • CRP (shld be raised)
  • faecal calprotectin (raised)
  • endoscopy > OGD and colonoscopy (gold standard)
  • imaging > US, CT, MRI (fistulas, abscesses, strictures)
65
Q

Tx for crohns

A

inducing: steroids (oral prednis or IV hydrocortisone)
maintenance: azathioprine

surgery if particular area severely affected

66
Q

Tx for UC?

A

inducing: mesalazine or corticosteroids
maintenance: mesalazine or azathioprine

surgery: remove colon and rectum

67
Q

what is congenital adrenal hyperplasia?

A

congenital deficiency causing underproduction of cortisol and aldosterone and overproduction of androgens (inherited by autosomal recessive pattern)

68
Q

how can congenital adrenal hyperplasia present in females?

A

ambiguous genitalia and an enlarged clitoris due to high testosterone levels

less severe present at puberty with:
- tall for their age
- facial hair
- absent periods
- deep voice
- early puberty

69
Q

how can males with congenital adrenal hyperplasia present?

A

at puberty:
- tall for their age
- deep voice
- large penis
- small testicles
- early puberty

70
Q

hoe can severe congenital adrenal hyperplasia present shortly after birth?

A
  • hyponatraemia
  • hyperkalaemia
  • hypoglycaemia

= poor feeding
= vomiting
= dehydration
= arrythmias

71
Q

tx of congenital adrenal hyperplasia?

A
  • cortisol replacment, with hydrocortisone
  • aldosterone replacement with fludrocortisone
  • females pts with virilised genitalia may require corrective surgery
72
Q

features of adrenal insufficiency in babies?

A
  • lethargy
  • vomiting
  • poor feeding
  • hypoglycaemia
  • jaundice
  • failure to thrive
73
Q

features of adrenal insufficiency in older children?

A
  • n+v
  • poor weight gain or weight loss
  • reduced appetite
  • abdo pain
  • muscle weakness or cramps
  • developmental delay or poor academic performance
  • bronze hyperpigmentation (from high ACTH)
74
Q

Ix to diagnose addisons

A

-U+Es (hyponatraemia and hyperkalaemia)
- blood glucose (hypoglycaemia)

test: cortisol, ACTH, aldosterone, renin levels

short synacthen test > give synacthen (synthetic ACTH) and failure of cortisol to rise after 30 and 60 mins = primary adrenal insufficiency

75
Q

Mx of adrenal insufficiency

A

hydrocortisone (glucocorticoid) to replace cortisol
fludrocortisone (mineralocorticoid) to replace aldosterone

given steroid card + steroid doses increased during acute illness

76
Q

features of an addisonian crisis?

A

reduced consiousness
hypotension
hypoglycaemia, hyponatraemia, hyperkalaemia

77
Q

mx of an addisonion crisis?

A
  • intensive monitoring if acutely unwell
  • parenteral steroids (IV hydrocortisone)
  • IV fluid resus
  • correct hypoglycaemia
  • careful monitoring of electrolytes and fluid balance
78
Q

presentation of DKA in children

A

polyuria
polydipsia
n+v
weight loss
acetone smell to breath
dehydration and hypotension
altered consciousness
symptoms of underlying trigger e.g. sepsis

79
Q

Ix to complete when suspected DKA

A
  • blood glucose (hyperglyceamia > 11mmol/L)
  • blood ketones (ketosis >3 mmol/L)
  • ABG (acidosis pH <7.3)
80
Q

Tx of DKA

A

correct dehydration slowly over 48 hrs
give fixed rate insulin infusion
add potassium to IV fluids
prevent hypoglycaemia with IV dextrose if glucose falls below 14 mmol/L

81
Q

Tx of cerebral oedema as consequence of DKA

A

slowing IV fluids,
IV mannitol
IV hypertonic saline

82
Q

how do children with type 1 diabetes usually present?

A

25-50% present in DKA

the rest present with classic triad of symptoms:
- polyuria
- polydipsia
- weight loss

(can also present with secondary enuresis or recurrent infections)

83
Q

what Ix need to be done in a child who presents with new diagnoses of type 1 diabetes?

A
  • FBC, U+E, lab glucose
  • blood cultures (if suspected infection)
  • HbA1c
  • TFTs + TPO
  • anti-TTG anitbodies (associated coeliacs)
  • insulin antibodies, anti-GAD antibodies + islet cell antibodies
84
Q

Mx of type 1 diabetes

A
  • subcut insulin regime
  • monitor dietary carb intake
  • monitor blood sugar levels
  • monitor for + manage complications
85
Q

short term complications of type 1 diabetes?

A

hypoglycaemia
hyperglycaemia (and DKA)

86
Q

long term complications of type 1 diabetes?

A

macrovascular: HTN, stroke, peripheral ischaemia, coronary artery disease

microvascular: peripheral neuropathy, retinopathy, kidney disease

infection: UTI, pneumonia, skin + soft tissue infect, fungal infections e.g. candidiasis

87
Q

what is duodenal atresia?

A

congenital malformation is which the duodenum does not recanalise and therefore is not patent

88
Q

what are the characteristic signs of duodenal atresia?

A

bilious vomiting
‘double bubble’ sign on XR

89
Q

Mx of duodenal atresia?

A

surgery -> duodenoduodenostomy

90
Q

Mx of crohns for induction and remission:

A

induction: corticosteroid (+/- mesalazine/azathioprine or biological agent e.g. infliximab)

remission: azathioprine

91
Q

Mx of UC for inductiona nd remission:

A

induction: IV corticosteroids (+/- mesalazine/azathioprine or biological agents e.g. infliximab)

remission: mesalazine/sulfasalazine/azathioprine