Abstract

PAREDES AGUILERA, Rogelio et al. Hermansky-Pudlak syndrome: variable clinical expression in two cases. Bol. Med. Hosp. Infant. Mex. [online]. 2012, vol.69, n.4, pp.300-306. ISSN 1665-1146.

Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported. Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient's death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity. Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.

Keywords : Hermansky-Pudlak syndrome; albinism; hemorrhage; pulmonary fibrosis; renal failure.

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