Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

BACKGROUND/AIMS Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. METHODS We investigated 25 patients from 16 families with unexplained nephroca...

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGF...

Renal hypomagnesemia, hypercalciuria, nephrocalcinosis

Nephrocalcinosis in Shwachman's syndrome

pregnancy, labour, and delivery. He was initially fed orally on a standard infant formula, but feeding became increasingly difficult and he failed to thrive. At 6 weeks of age, he was admitted to hospital, where he continued to gain weight poorly despite numerous feed changes. Nasogastric feeding was therefore started at 10 weeks of age. Investigations showed intermittent neutropenia (the lowes...

Nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).

Familial Hypomagnesemia, Hypercalciuria with Nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitr...