Abstract

PONCE, Jenny; SALINAS, César  and  LOZA, Reyner. Atypical hemolytic uremic syndrome of neonatal presentation. Rev Med Hered [online]. 2011, vol.22, n.1, pp.29-33. ISSN 1018-130X.

Hemolytic Uremic Syndrome (HUS) has typical and atypical presentations. A variety of genetic forms, with poor prognosis are described. We report a 36 week premature baby, low birth weight, who at 2 weeks of life evolved with sepsis and intestinal necrosis undergoing surgery for ileostomy, hypertension, hematuria, acute renal failure and persistent proteinuria. At 2 months, after ileostomy closure, developed irreversible septic shock and died. Post-mortem renal biopsy was compatible with HUS. Two years later, a brother presented after 2 days of birth with congenital nephrotic syndrome. Genetic studies revealed that the mother was carrying the gene NPHS1 and the father, factor I of complement. The second child was a carrier of both genes. (Rev Med Hered 2011;22:29-33).

Keywords : Atypical HUS; factor I gen; acute kidney failure.

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