title: 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.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kalawati Saran Children's Hospital and Lady Hardinge Medical College, New Delhi, India. dr_soumyapatra@rediffmail.com
authors.forename: Soumya
authors.initials: S
authors.lastname: Patra
authors.forename: Gulnaz
authors.initials: G
authors.lastname: Nadri
authors.forename: Harish
authors.initials: H
authors.lastname: Chowdhary
authors.forename: Harish K
authors.initials: HK
authors.lastname: Pemde
authors.forename: Varinder
authors.initials: V
authors.lastname: Singh
authors.forename: Jagdish
authors.initials: J
authors.lastname: Chandra
mesh_terms: D000138:Acidosis / Q000175:diagnosis / Q000209:etiology; D002648:Child; D018500:Diabetes Insipidus, Nephrogenic / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis*; D005198:Fanconi Syndrome / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male