Shalev Hanna, Romanovsky Igor, Knoers Nine V, Lupa Salomon, Landau Daniel
Department of Pediatrics, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel.
Nephrol Dial Transplant. 2004 Mar;19(3):608-13. doi: 10.1093/ndt/gfg574.
The aim of this study was to describe the urological complications associated with nephrogenic diabetes insipidus (NDI) due to a mutation in aquaporin-2 (AQP2), a collecting-duct protein activated by ADH signalling.
We provide a case series description of a group of seven patients with autosomal recessive NDI due to AQP2 gene mutation, receiving routine medical management since diagnosis in the first months of life.
Mean urine osmolarity at diagnosis and last follow-up was 89+/-25 and 83+/-18 mosm/l, respectively. Hydroureteronephrosis was observed in all children, beginning at age 3 years. Two children have daytime enuresis at ages 7 and 10 years and all children older than 6 years continue to have nocturnal enuresis. Markedly enlarged bladders were observed as early as age 4 years in all patients. Trabeculated bladder walls were found in three children. Urodynamic studies performed in two daytime incontinent children revealed a hypotonic-large-capacity type of neurogenic bladder. No impairment in kidney function is currently observed.
The severe renal concentrating defect in this type of NDI is associated with the development of hydroureteronephrosis followed by bladder enlargement and dysfunction. Careful follow-up is needed in order to assure that no bladder outlet obstruction and/or renal insufficiency develop.
本研究旨在描述与因水通道蛋白-2（AQP2）突变所致的肾性尿崩症（NDI）相关的泌尿系统并发症，AQP2是一种由抗利尿激素信号激活的集合管蛋白。
我们提供了一组7例因AQP2基因突变导致常染色体隐性NDI患者的病例系列描述，这些患者自出生后最初几个月确诊以来一直接受常规药物治疗。
诊断时及末次随访时的平均尿渗透压分别为89±25和83±18mOsm/l。所有患儿均在3岁时出现肾盂积水。2名患儿分别在7岁和10岁时出现日间遗尿，所有6岁以上患儿仍有夜间遗尿。所有患者早在4岁时就观察到膀胱明显增大。3名患儿发现膀胱壁小梁化。对2名日间尿失禁患儿进行的尿动力学研究显示为低张大容量型神经源性膀胱。目前未观察到肾功能损害。
此类NDI严重的肾浓缩功能缺陷与肾盂积水的发展相关，继而出现膀胱增大和功能障碍。需要进行仔细随访，以确保不发生膀胱出口梗阻和/或肾功能不全。
