title: A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Pediatrics, Kansai Medical University, 2-5-1 Shin- machi, Hirakata- shi, Osaka 573 1010, Japan. tsujis@hirakata.kmu.ac.jp
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Miyoko
authors.initials: M
authors.lastname: Yamashita
authors.forename: Gen
authors.initials: G
authors.lastname: Unishi
authors.forename: Reiko
authors.initials: R
authors.lastname: Takewa
authors.forename: Takahisa
authors.initials: T
authors.lastname: Kimata
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Isobe
authors.forename: Motoko
authors.initials: M
authors.lastname: Chiga
authors.forename: Shinichi
authors.initials: S
authors.lastname: Uchida
authors.forename: Kazunari
authors.initials: K
authors.lastname: Kaneko
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D044842:Cullin Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011546:Pseudohypoaldosteronism / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C503645:CUL3 protein, human; D044842:Cullin Proteins
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