Paeds Endocrinology + Gastroenterology Flashcards
name the three phases of growth
- infant
- childhood
- pubertal
name some causes for symmetrical SGA?
mother is small or chromosomal abnormalities
name some causes of asymmetrical SGA?
smoking, alcohol, drugs
placental issues (e.g. insufficiency)
name the two important hormones in growth
growth hormone and thyroid hormone
how can growth hormones deficiency present? in neonates and older children
neonates:
- micropenis
- hypoglycaemia
- severe jaundice
older infants:
- poor growth (slowing from age 2/3)
- short stature
- slow development of movement and strength
- delayed puberty
names the causes of short stature?
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)
what Ix would be done to check for causes of short stature?
- growth hormone stimulation test -> stimulate growth hormone release by glucagon, insulin, arginine or clonidine and measure levels of GH.
- test for adrenal or thyroid deficiency
- MRI brain - structural pituitary or hypothalamus abnormalities
- genetic testing - prader-willi, turner
- xray - DEXA scan can determine bone age
Tx for growth hormone deficiency?
- daily subcut injections of growth hormone (somatropin)
- Tx of other hormone deficiencies
- monitoring of height and development
how is congenital hypothyroidism screened for these days?
newborn blood spot screening test
what are teh features of congenital hypothyroidism?
Prolonged neonatal jaundice
Poor feeding
Constipation
Increased sleeping
Reduced activity
Slow growth and development
ix for congenital hypothyroidism?
TFTs (TSH, T3, T4)
thyroid USS
thyroid antibodies
tx of congenital hypothyroidism?
levothyroxine
what is the most common cause of acquired hypothyroidism?
hashimoto’s (autoimmune thyroiditis)
what does the newborn blood spot screening test pick up?
- phenylketonuria
- congenital hypothyroidism
- medium chain acyl-coA-dehydrogenase deficiency (MCADD)
- sickle cell disease
- cystic fibrosis
name some lfiestyle facttors that can cause constipation?
- habitually not opening bowels
- low fibre diet
- poor fluid intake and dehydration
- sedentary lfiestyle
- psychosocial problems
secondary cuases of constipation in children?
hirschsprungs disease
cystic fibrosis (meconium ileus in particular)
hypothyroidism
spinal cord lesions
sexual abuse
intenstinal osbtruction
anal stenosis
cows milk intolerance
complications of constipation?
- pain
- reduced sensation
- anal fissures
- heamorrhoids
- overflow an soiling
- psychosocial morbidity
Mx of primary constipation?
- 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
what is hirschsprungs disease?
birth defect in which some nerve cells are absent in distal bowel and rectum = obstruction in bowel
what other syndromes is hirschsprungs associated with?
- downs syndrome
- neurofibromatosis
- waardenburg syndrome
- multiple endocrine neoplasia type II
presentations of hirschsprungs disease?
- delay in passing meconium (>24hrs)
- chronic constipation since birth
- abdo pain and distention
- vomiting
- poor weight gain and failure to thrive
what is hirschsprung associated enterocolitis?
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
Tx of hirschsprung associated entercolitis?
abx
fluid resus
decompression of obstructed bowel
Ix for hirschsprungs disease?
AXR
rectal biopsy (gold standard) - look at bowel histology
Mx of hirschsprungs disease?
- surgical removal of aganglionic section of bowel
presentation of coeliac disease in children?
- failure to thrive
- diarrhoea
- fatigue
- weight loss
- mouth ulcers
- anaemia secondary to b12, iron or folate deficiency
- dermatitis herpetiformis
how is a diagnosis of coeliacs given.?
Ix to be carried out whilst pt is on a diet containing gluten
- check total immunoglobulin A levels to exclude IgA deficiency
- check for raised anti-TTG antibodies
- endoscopy and intestinal biopsy show crypt hypertrophy and villous atrophy
coeliacs tx?
gluten free diet
what is biliary atresia?
congenital condition where a section of the bile duct is either narrows or absent
how does biliary atresia present?
shortly after birth with jaundice (lasting longer than 14 days)
Mx of biliary atresia?
- 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
signs of GORD in children under 1yo?
- chronic cough
- hoarse cry
- distress, crying or unsettled after feeding
- reluctance to feed
- pneumonia
- poor weight gain
signs of GORD in children over 1yo?
- heartburn
- acid regurg
- retrosternal or epigastric pain
- bloating
- nocturnal cough
Mx of GORD in children?
- 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
what ix are done to diagnose GORD In children?
only investigate serious cases:
- barium meals
- endoscopy
what is pyloric stenosis?
congenital condition that cuases hypertrophy of the pylorus and obstruction