ArticleIndian journal of pediatrics2013
Clinical and etiological profile of refractory rickets from western India.
Article in Indian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical and genetic spectrum of distal renal tubular acidosis in children: findings from Indian tubular disorders registry.Pediatric nephrology (Berlin, Germany) · 2026Article
- Article
- Refractory Rickets: Evaluation and Management.Indian journal of pediatrics · 2026Review
- Etiology, clinical characteristics, genetic profile, and outcomes of children with refractory rickets at a referral center in India: a cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.Pediatric nephrology (Berlin, Germany) · 2025Article
- Diagnostic approach to rickets: an Endocrine Society of Bengal (ESB) consensus statement.Annals of pediatric endocrinology & metabolism · 2024Article
- Misdiagnosed metabolic bone abnormality: a case report.Journal of medical case reports · 2023Article
- Hypokalemic quadriparesis and rhabdomyolysis as a rare presentation of distal renal tubular acidosis.Medical journal of the Islamic Republic of Iran · 2014Article
- Clinical and Biochemical Characteristics of Patients with Renal Tubular Acidosis in Southern Part of West Bengal, India: A Retrospective Study.Indian journal of endocrinology and metabolismArticle
- Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study.Indian journal of endocrinology and metabolismArticle
- Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.Jornal brasileiro de nefrologiaReview
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3 authors at 1 institution in 1 country.
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Abstract
objectiveTo present clinical and etiological profile of refractory rickets from Mumbai.
methodsCase 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.
resultsTwenty 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.
conclusionsRefractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.
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