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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

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Idiopathic Fanconi’s syndrome with nephrogenic diabetes insipidus in a child who presented as vitamin D resistant rickets – a case report and review of literature

1 / Gulnaz Nadri1 / Harish Chowdhary1 / Harish K. Pemde1 / Varinder Singh1 / Jagdish Chandra1

1Department of Pediatrics, Kalawati Saran Children’s Hospital and Lady Hardinge Medical College, New Delhi, India

Corresponding author: Soumya Patra, Senior Resident, Department of Pediatrics, Kalawati Saran Children’s Hospital and Lady Hardinge Medical College, New Delhi, India Phone: +91 03220-253630

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 24, Issue 9-10, Pages 755–757, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/JPEM.2011.286, July 2011

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Fanconi’s syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders. It is characterized by aminoaciduria, normoglycemic glycosuria, tubular proteinuria without hematuria, metabolic acidosis without anion gap and excessive urinary excretion of phosphorous, calcium, uric acid, bicarbonate, sodium, potassium and magnesium. Diabetes insipidus is a disease of collecting tubules and a child mainly presents with dehydration and hypernatremia. We report the first case of idiopathic Fanconi’s syndrome along with nephrogenic diabetes insipidus (NDI) in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi’s syndrome. We hypothesized that the NDI may be due to severe hypokalemia induced tubular dysfunction. The child was treated for hypophosphatemic rickets with severe metabolic acidosis and the treatment for NDI was also given. Now he has healed rickets and normal blood pH, sodium and osmolarity.

Keywords: Fanconi’s syndrome; nephrogenic diabetes insipidus; resistant rickets

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