Echenique Ignacio, García Gonzrález José M, Echenique Ignacio A, Izquierdo Natalio J, Mella Juan R, Barasorda Eligio, Mella Maria T, Figueroa-Boilo Siegfried
Department of Surgery, Auxilio Mutuo Hospital, Rio Piedras, P.R.
Bol Asoc Med P R. 2008 Jan-Mar;100(1):76-9.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder consisting of oculocutaneous albinism, platelet dysfunction and systemic complications associated with lipofuscin deposition in the reticuloendothelial system. HPS has been associated with a granulomatous enterocolitis with pathologic features suggestive of Crohn's disease. It remains uncertain if HPS represents a truly distinct form of granulomatous enterocolitis. We report a series of two patients with HPS treated in Puerto Rico, and the results from medical and surgical intervention for gastrointestinal disease. Our experience with HPS patients has shown the difficult management of perineal disease similar in the management of Crohn's. However, complications from the bleeding diathesis necessitate caution during surgery and potential anesthesia complications. Furthermore, avoidance of a perineal wound is preferred, and when possible, ileostomies have fewer complications than colostomies as they do not involve the small bowel.
赫尔曼斯基-普德拉克综合征（HPS）是一种罕见的常染色体隐性疾病，其特征包括眼皮肤白化病、血小板功能障碍以及与脂褐素在网状内皮系统沉积相关的全身并发症。HPS与一种具有提示克罗恩病病理特征的肉芽肿性小肠结肠炎有关。HPS是否代表一种真正独特的肉芽肿性小肠结肠炎形式仍不确定。我们报告了在波多黎各治疗的一系列两例HPS患者，以及针对胃肠疾病的药物和手术干预结果。我们对HPS患者的经验表明，会阴疾病的管理困难，与克罗恩病的管理相似。然而，出血素质引起的并发症在手术期间需要谨慎处理，并且存在潜在的麻醉并发症。此外，最好避免会阴伤口，并且在可能的情况下，回肠造口术的并发症比结肠造口术少，因为回肠造口术不涉及小肠。
