J Clin Nephrol Kidney Dis | Volume 4, Issue 1 | Case Report | Open Access

A Syndrome Hides Another, About an Algerian Family

Khellaf G1*, Saidani M1, Missoum S2, Rayane T3, Kaci L4, Gubler M-C5 and Benabadji M1

1Department of Nephrology, Beni Messous Hospital, Benkheda Youssef University, Algeria
2Department of Nephrology, University Boubnider Salah, Algeria
3Department of Nephrology, Nefissa Hamoud Hospital, Benkheda Youssef University, Algeria
4Pathology Private Laboratory, Algeria
5Hospital Necker, France

*Correspondance to: Khellaf G 

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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.


Toni debré fanconi syndrome; Niemann pick b syndrome; Renal failure


Khellaf G, Saidani M, Missoum S, Rayane T, Kaci L, Gubler M-C, et al. A Syndrome Hides Another, About an Algerian Family. J Clin Nephrol Kidney Dis. 2019; 4(1): 1021.

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