A Syndrome Hides Another, About an Algerian Family

Background: Toni Debré Fanconi syndrome is characterized by a generalized dysfunction of the proximal tube. The isolated, familial syndrome is rare. It is transmitted according to the autosomal dominant mode. Niemann-Pick disease (NP) is an equally rare autosomal recessive disorder characterized by lysosomal accumulation of sphingomyelin in body cells. The disease is caused by mutations in the SMPD1 gene that cause lysosomal acid sphingomyelinase deficiency. Case Report: We report a case of a 28-years-old patient from first-degree consanguineous marriage, family history of polydipsia and polyuria, staff hospitalized for moderate renal impairment and asthenia, the finding of tubular proteinuria associated with hypouricemia, hyperphosphaturia and hypercalciuria, leads to the diagnosis of Toni Debré Fanconi syndrome. On the other hand, the particular face of the patient, the existence of hepatosplenomegaly, hypertriglyceridemia and thrombocytopenia lead to the diagnosis of Niemann Pick type B syndrome, diagnosis confirmed by the biochemical assay and the genetic study. Conclusion: We report the rare association, in a Maghrebian family, of an autosomal dominant Toni Debré Fanconi syndrome, and an autosomal recessive disorder, Niemann Pick B syndrome.