Rickets

Question 1

Causes of Rickets

Answer 1

1. Vit D deficency ( Malnutrition; Malabsorption; steatorrhoea from the gut / pancreatic or biliary tract diseases
2. Chronic Liver diseases
3. Chronic Renal failure
4. Renal tubular disorders
   a) Fanconi’s syndrome - cystinosis, Wilson’s disease, galactosaemia)
   b) Lowe’s syndrome (XL, Cataract, Glaucoma, Fanconi’s and MD).
   c) Distal renal tubular acidosis
   d) Vitamin D dependent rickets
5. Vitamin D resistant rickets (1 alph hydroxylase deficiency)
6. Drugs (phenytoin)

Question 2

Steps in physical examination

Answer 2

1. Demonstrate signs of Rickets (Short, Frontal bossing, patent anterior fontanelle, Rickety Rosary, Harrison’s sulci, Delayed dentition, Widened epiphysis, genu valgum or varum
2. Note if parents with similar deformity, esp bowleg
3. Look for -
   a) Signs of renal failure - pallor, complexion;
   b) Signs of chronic liver disease - clubbing, palmar erthyma, spider angioma, gum hypertrophy
   c) Eye - Corneal deposit in cystinosis; KF ring in Wilson disease; Cataract in Galactomsaemia & Lowe syndrome
4. Abdominal examination for liver, spleen, kidney & bladder, evidence of portal hypertension
5. Measure BP
6. Urinanalysis

Question 3

Cystinosis

Answer 3

Defect in lysosomal cystine transport system = Classic infantile nephropathic cystinosis —-> Renal fanconi syndrome & hyperchloraemic RTA

C/F

1. Growth failure
2. Rickets
3. Photophobia
4. Corneal slip lamp examination —> Cystine crystal ++
5. Fundi —> Salt and pepper retinopathy