Torres R, Martínez Ara J, Mora M, García Puig J
Servicios de Bioquímica Clínica, Hospital Universitario La Paz, Universidad Autónoma de Madrid.
Nefrologia. 2006;26(3):382-6.
We describe one patient with the pre-symptomatic diagnosis of the disease named afamilial nephropathy associated to hyperuricemia)) (OMIM 162000; FJHN). This is a hereditary disease, autosomic dominant, characterized by its progression to renal insufficiency. Several mutations in the gene that codifies uromodulin or Tannn-Horsfall protein (UMOD) have been identified in some families. The clinical presentation is heterogeneous. In some cases the disease appears as juvenile hyperuricemia due to a diminished renal urate excretion, with or without gout, but in some other cases the first manifestation is renal insuffciency. The study of the UMOD gene shows that patient is heterozygous for the mutation C869 --> A, which results in C255Y change, and enabled to establish the diagnosis of FJHN. This patient shows the possibility to identify the genetic alteration associated to FJHN in early stages. This fact implies a clinical follow-up and eventual treatment to reduce the inexorable progression to renal insuffciency.
我们描述了一名患有名为“与高尿酸血症相关的家族性肾病”（OMIM 162000；FJHN）的疾病的患者，该诊断为症状前诊断。这是一种常染色体显性遗传疾病，其特征是会发展为肾功能不全。在一些家族中已鉴定出编码尿调节蛋白或Tamm-Horsfall蛋白（UMOD）的基因存在多种突变。临床表现具有异质性。在某些情况下，由于肾脏尿酸排泄减少，该疾病表现为青少年高尿酸血症，伴有或不伴有痛风，但在其他一些情况下，首发表现为肾功能不全。对UMOD基因的研究表明，该患者的C869→A突变呈杂合状态，该突变导致C255Y变化，并得以确立FJHN的诊断。该患者显示出在早期阶段识别与FJHN相关的基因改变的可能性。这一事实意味着需要进行临床随访并最终进行治疗，以减少向肾功能不全的必然进展。
