Gusmano Rosanna, Caridi Gianluca, Marini Monica, Perfumo Francesco, Ghiggeri Gian Marco, Piaggio Giorgio, Ceccherini Isabella, Seri Marco
Nephrology Department, G. Gaslini Children's Hospital, Genoa, Italy.
Nephrol Dial Transplant. 2002 May;17(5):813-8. doi: 10.1093/ndt/17.5.813.
Glomerulocystic kidney disease (GCKD) is a rare renal disorder, the identity of which has long been discussed. GCKD can occur in a familial form with autosomal dominant transmission. The presence of GCKD in families affected with autosomal dominant polycystic kidney disease (ADPKD) has lent support to the hypothesis that GCKD may be an early manifestation of ADPKD. In families with hypoplastic forms of GCKD, the HNF-1beta gene has recently been identified.
Three members of a family were evaluated: a girl (case 1) and her brother (case 2), who were aged 11 and 12 years, respectively, at the beginning of the study, and, subsequently, the girl's son, when he was 4 years old (case 3). They all had mild renal insufficiency. Clinical, morphological and genetic evaluations were performed on 11 members of the family.
Case 1. A mild reduction in renal length with modest dysmorphology of renal calyces and hyperechogenic parenchyma were present when the patient was 11 years old. At the age of 29 some small renal cysts were identified, which remained unchanged over the next 8 years. Renal dysfunction remained stable. Case 2. A slight reduction in size of a hyperechogenic kidney was found. Cysts were seen at the age of 38. Renal dysfunction remained unchanged. Case 3. Kidneys were of normal size. Small cysts were found at the age of 9 years. In cases 1 and 2, histopathology was highly consistent with GCKD. In none of the cases associated pathological conditions could be identified. Haplotype reconstruction allowed the exclusion of PKD1 and PKD2 genes. No mutation of the HNF-1beta gene was found.
The morphological data from the three cases are suggestive of GCKD. The involvement of PKD1, PKD2 and HNF-1beta gene mutations was excluded.
肾小球囊性肾病（GCKD）是一种罕见的肾脏疾病，其本质长期以来一直存在争议。GCKD可呈常染色体显性遗传的家族性形式。在常染色体显性多囊肾病（ADPKD）患者家族中出现GCKD支持了GCKD可能是ADPKD早期表现的假说。在发育不全型GCKD家族中，最近发现了肝细胞核因子-1β（HNF-1β）基因。
对一个家族的三名成员进行了评估：一名女孩（病例1）和她的哥哥（病例2），研究开始时分别为11岁和12岁，随后是该女孩4岁的儿子（病例3）。他们都有轻度肾功能不全。对该家族的11名成员进行了临床、形态学和遗传学评估。
病例1。患者11岁时肾脏长度轻度缩短，肾盏有轻度形态异常，肾实质回声增强。29岁时发现一些小肾囊肿，在接下来的8年中保持不变。肾功能障碍保持稳定。病例2。发现一个回声增强的肾脏体积略有缩小。38岁时发现囊肿。肾功能障碍保持不变。病例3。肾脏大小正常。9岁时发现小囊肿。病例1和病例2的组织病理学与GCKD高度一致。在所有病例中均未发现相关的病理状况。单倍型重建排除了多囊肾病1（PKD1）和多囊肾病2（PKD2）基因。未发现HNF-1β基因突变。
这三个病例的形态学数据提示为GCKD。排除了PKD1、PKD2和HNF-1β基因突变的参与。
