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首页> 外文期刊>BMC Nephrology >A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3
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A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

机译：一个因Cullin 3突变而患有II型假性醛固酮增多症的幼儿

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Background Pseudohypoaldosteronism type II (PHA II), also referred to as Gordon syndrome, is a rare renal tubular disease that is inherited in an autosomal manner. Though mutations in WNK1 and WNK4 partially account for this disorder, in 2012, 2 research groups showed that KLHL3 and CUL3 were the causative genes for PHA II. Here, we firstly report on the Japanese child of PHA II caused by a mutation of CUL 3. Case presentation The patient was a 3-year-old Japanese girl having healthy unrelated parents. She was initially observed to have hyperkalemia, hyperchloremia, metabolic acidosis, and hypertension. A close investigation led to the diagnosis of PHA II, upon which abnormal findings of laboratory examinations and hypertension were immediately normalized by administering thiazides. Genetic analysis of WNK1 and WNK4 revealed no mutations. However, analysis of the CUL3 gene of the patient showed abnormal splicing caused by the modification of exon 9. The patient is currently 17 years old and does not exhibit hypertension or any abnormal findings on laboratory examination. Conclusions In this patient, CUL3 was found to play a fundamental role in the regulation of blood pressure, potassium levels, and acid–base balance.
机译：背景II型假性低醛固酮增多症（PHA II），也称为戈登综合症，是一种罕见的肾小管疾病，以常染色体方式遗传。尽管WNK1和WNK4的突变部分导致了这种疾病，但在2012年，两个研究小组表明KLHL3和CUL3是PHA II的致病基因。在这里，我们首先报道由CUL 3突变引起的日本儿童PHA II。病例介绍该患者是一名3岁的日本女孩，父母健康，父母无关。最初观察到她患有高钾血症，高氯血症，代谢性酸中毒和高血压。密切的调查导致了PHA II的诊断，通过给予噻嗪类药物，实验室检查和高血压的异常发现立即得以正常化。 WNK1和WNK4的遗传分析显示没有突变。然而，对该患者CUL3基因的分析显示，外显子9修饰引起异常剪接。该患者现年17岁，在实验室检查中未表现出高血压或任何异常发现。结论在该患者中，发现CUL3在调节血压，钾水平和酸碱平衡中起着基本作用。

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