Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

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A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria low molecular weight proteinuria glycosuria hyperphosphaturia and hypouricemia and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis) namely renal impairment hypercalciuria with relative hypocalcemia and hypermagnesemia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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