title: Clinical and etiological profile of refractory rickets from western India.
abstract: OBJECTIVE
  To present clinical and etiological profile of refractory rickets from Mumbai.
  
  
  METHODS
  Case records of 36 patients presenting over 2½ y with refractory rickets were evaluated with respect to clinical presentation, biochemical, radiological features and where needed, ophthalmological examination, ultrasonography and special tests on blood and urine.
  
  
  RESULTS
  Twenty three (63 %) patients had renal tubular acidosis (RTA)-distal RTA in 20 and proximal RTA in 3 patients; 5 (14 %) had vitamin D dependent rickets (VDDR I in 2 and VDDR II in 3 patients), 4 (11 %) had chronic renal failure (CRF) and 2 each (6 %) had hypophosphatemic rickets and chronic liver disease as cause of refractory rickets. A significant proportion of patients with RTA and VDDR showed skeletal changes of rickets in the first 2 y of life, while those with hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs, normal blood calcium and PTH levels and phosphorus leak in urine. All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. Three (75 %) patients with rickets due to CRF had GFR < 30 ml/min/1.73 m(2) and hyperphosphatemia. Patients with cirrhosis due to biliary atresia had rickets inspite of taking high dose of vitamin D orally.
  
  
  CONCLUSIONS
  Refractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.
authors.affiliation: Department of Pediatrics, B.J. Wadia Hospital for Children, Parel, Mumbai 400 012, India. rrj23@rediffmail.com
authors.forename: Rajesh R
authors.initials: RR
authors.lastname: Joshi
authors.forename: Shailesh
authors.initials: S
authors.lastname: Patil
authors.forename: Sudha
authors.initials: S
authors.lastname: Rao
mesh_terms: D000141:Acidosis, Renal Tubular / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D008297:Male; D012189:Retrospective Studies; D012279:Rickets / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D063730:Rickets, Hypophosphatemic / Q000150:complications / Q000175:diagnosis / Q000209:etiology