Dent-Wrong disease, an X-linked recessive disorder of the proximal tubules, presents with hypercalciuria, nephrocalcinosis, nephrolithiasis, renal insufficiency, low-molecular-weight proteinuria, rickets and/or osteomalacia. Dent and Friedman initially characterized the disorder in 1964 following studies of two patients with rickets who presented with hypercalciuria, hyperphosphaturia, proteinu...

BACKGROUND Wilson's disease (WD) is a rare autosomal-recessive disorder characterized by a mutation in the ATP7B gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. CASE PRESENTATION We described the case of an Indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. The symptoms began at the ag...

WORCESTER ET AL. (1) ARE TO be praised for their recent contribution to an understanding of the pathophysiology of hypercalciuria. However, we would like to call their attention to potential pitfalls in their interpretation of three of their data. 1) They state that the overlap between normal subjects (N) and idiopathic hypercalciuria calcium stone formers (IHSF) is minimal with respect to frac...

This essay introduces a new featured section, to be published in Small Axe annually, that explores the critical vocabulary of field Caribbean studies.

INTRODUCTION Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. OUTLINE OF CASES The first three patients were siblings from the same family. The index...