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1.
Indian J Endocrinol Metab ; 16(Suppl 2): S399-401, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23565442

ABSTRACT

Renal tubular disorders are an important cause of refractory rickets. Wilson's disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi's syndrome attributable to Wilson's disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS) was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OH)D] was adequate (57.1 ng/dL), with normal corrected calcium (9.24 mg/dL), low phosphate (2.76 mg/dL), elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH4CL) challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson's disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL) with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg). She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson's disease. Rickets as a presenting feature of Wilson's disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

2.
Trop Doct ; 39(3): 187-8, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19535766

ABSTRACT

After its first appearance in Kolkata (Calcutta) during 1963-1965, chikungunya occurred in epidemic form in India in 17 states and union territories. There were 13,90,322 cases suspected to be suffering from chikungunya in 2006, 59,535 in 2007 and 11,222 in 2008; in 2006, 2007 and 2008 there were 15,961, 7,837 and 262 samples, respectively, sent to the National Institute of Virology, Pune, and the National Institute of Communicable Disease, Delhi, for serological diagnosis. Of these, 2001, 1826 and 44, respectively, were confirmed as chikungunya. There were no deaths (data from the National Vector Borne Disease Control Programme, Government of India).


Subject(s)
Alphavirus Infections/mortality , Chikungunya virus , Adult , Female , Humans
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