Claudino Mário Angelo, Fertrin Kleber Yotsumoto
Laboratory of Multidisciplinary Research, São Francisco University (USF), 12916-900 Bragança Paulista, SP, Brazil.
Anemia. 2012;2012:723520. doi: 10.1155/2012/723520. Epub 2012 Jun 13.
Sickle cell anemia is one of the best studied inherited diseases, and despite being caused by a single point mutation in the HBB gene, multiple pleiotropic effects of the abnormal hemoglobin S production range from vaso-occlusive crisis, stroke, and pulmonary hypertension to osteonecrosis and leg ulcers. Urogenital function is not spared, and although priapism is most frequently remembered, other related clinical manifestations have been described, such as nocturia, enuresis, increased frequence of lower urinary tract infections, urinary incontinence, hypogonadism, and testicular infarction. Studies on sickle cell vaso-occlusion and priapism using both in vitro and in vivo models have shed light on the pathogenesis of some of these events. The authors review what is known about the deleterious effects of sickling on the genitourinary tract and how the role of cyclic nucleotides signaling and protein kinases may help understand the pathophysiology underlying these manifestations and develop novel therapies in the setting of urogenital disorders in sickle cell disease.
镰状细胞贫血是研究最为深入的遗传性疾病之一。尽管它由HBB基因的单点突变引起，但异常血红蛋白S产生的多种多效性效应范围广泛，从血管阻塞性危机、中风、肺动脉高压到骨坏死和腿部溃疡。泌尿生殖功能也未能幸免，虽然阴茎异常勃起最为人所熟知，但也有其他相关临床表现的描述，如夜尿症、遗尿症、下尿路感染频率增加、尿失禁、性腺功能减退和睾丸梗死。利用体外和体内模型对镰状细胞血管阻塞和阴茎异常勃起的研究，为其中一些事件的发病机制提供了线索。作者回顾了关于镰状化对泌尿生殖道有害影响的已知情况，以及环核苷酸信号传导和蛋白激酶的作用如何有助于理解这些表现背后的病理生理学，并在镰状细胞病泌尿生殖系统疾病的背景下开发新的治疗方法。
