A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

BMC Nephrology

Kazunari Kaneko³  Shinichi Uchida⁴  Motoko Chiga⁴  Kiyoshi Isobe⁴  Takahisa Kimata³  Reiko Takewa³  Gen Unishi¹  Miyoko Yamashita²  Shoji Tsuji³ 

[1] Department of Pediatrics, Unishi Clinic, Osaka, Japan;Department of Pediatrics, Saiseikai Noe Hospital, Osaka, Japan;Department of Pediatrics, Kansai Medical University, 2-5-1 Shin- machi, Hirakata- shi, Osaka 573 1010, Japan;Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan

关键词: Ubiquitination;    Gordon syndrome;    Cullin 3;    Kelch-like 3;    Pseudohypoaldosteronism;   

Others  :  1082873
DOI  :  10.1186/1471-2369-14-166

 received in 2013-04-11, accepted in 2013-07-30,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Tsuji et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

【 参考文献 】

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