Emre ÇELİK, Zafer BAŞLAR, NİHAL ÖZDEMİR, Tiraje CELKAN

Trombosit işlev bozukluğunun nadir bir nedeni: Hermansky-Pudlak sendromu

Hermansky-Pudlak sendromu (HSP) okulokutanöz albinizm ve trombosit agregasyon bozukluğu ile belirgin otozomal çekinik ge- çişli bir hastalıktır. Klinik tablo oldukça değişkendir ve hastalar farklı yakınmalarla başvurabilir. Çocukluk çağında vücutta morluklar baş- lar; burun kanaması, cerrahi sonrası kanama, diş eti kanamaları gö- rülebilir. Bu yazıda kliniğimizde HSP tanısı alan üç olgu sunuldu. Sonuç olarak göz bulguları ve albinizm olan her hastada eşlik eden kanama bozukluğu tarif edilmiyor bile olsa HPS düşünülmelidir. Ka- nama bulguları hafif veya farkedilmemiş olabilir. Trombosit agregas- yon testlerinde ikinci dalganın yokluğu tanıyı destekler. (Türk Ped Arş 2014; 49: 163-6)

A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disease characterized with oculocutaneous albinism and plateleaggregation disorder. The clinical picture is highly variable and patients may present with different complaints., Ecchymoses usu- ally develop in childhood; epistaxis, postoperative hemorrhage and gingival bleeding may be observed. Here we present 3 pa- tients who were diagnosed with HPS in our clinic. In conclusionHPS should be considered in all patients with ocular findings and albinism even though bleeding disorder is not described. Bleed- ing findings may be mild or unrecognized. Absence of second- ary wave in platalet aggregation tests supports the diagnosis(Türk Ped Arş 2014; 49: 163-6)

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Hermansky F, Pudlak P. Albinism associated with hemorrha- gic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959; 14: 162-9.
Witkop CJ, Nunez Babcock M, Rao GH, et al. Albinism and Her- mansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990; 82: 333-9.
Hurford MT, Sebastiano C. Hermansky-Pudlak syndrome: Re- port of a case and review of the literature. Int J Clin Exp Pathol 2008; 1: 550-4.
Nurden P, Nurden AT. Congenital disorders associated with platelet dysfunctions. Thromb Haemost 2008; 99: 253-63.
Wei ML. Hermanksy-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res 2006; 19: 19-42. [CrossRef]
Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 2006; 108: 81-7. [CrossRef]
Van Dorp DB, Wijermans PW, Meire F, Vrensen G. The Her- mansky-Pudlak syndrome. Variable reaction to 1-desamino- 8D-arginine vasopressin for correction of the bleeding time. Opthalmic Paediatr Genet 1990; 11: 237-44. [CrossRef]
Del Pozo Pozo AI, Jimenez-Yuste V, Villar A, Villar A, Quintana M, Hernandez-Navarro F. Successful thyroidectomy in a patient with Hermansky-Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates. Blood Coagul Fib- rinolysis 2002; 13: 551-3. [CrossRef]
Lederer DJ, Kawut SM, Sonett JR, et al. Successful bilateral lung transplantation for pulmonary fibrosis associated with Her- mansky-Pudlak syndrome. J Heart Lung Transplant 2005; 24: 1697-9. [CrossRef]