Clinical manifestation and molecular analysis of three Korean patients with the renal form of pseudohypoaldosteronism type 1

Research output: Contribution to journalArticle

Abstract

Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1. Here, we describe the clinical and biochemical characteristics of three sporadic cases from two Korean families diagnosed with the renal form of PHA type 1. Mutation analysis of the NR3C2 gene revealed one novel mutation in twin patients and two functional polymorphisms in one patient with unusual clinical symptoms. Our data contribute to a better understanding of the distinct mutations and clinical manifestations of the renal form of PHA type 1.

Original languageEnglish
Pages (from-to)83-87
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Volume47
Issue number1
Publication statusPublished - 2017 Jan 1

Fingerprint

Pseudohypoaldosteronism
Genes
Cytoplasmic and Nuclear Receptors
Kidney
Mutation
Epithelial Sodium Channels
Mineralocorticoids
Polymorphism
Dehydration
Failure to Thrive
Hyperkalemia
Hyponatremia
Rare Diseases
Vomiting

Keywords

  • Hyponatremia
  • Mineralocorticoid receptors
  • NR3C2 gene
  • Pseudohypoaldosteronism

ASJC Scopus subject areas

  • Immunology and Allergy
  • Microbiology
  • Pathology and Forensic Medicine
  • Immunology
  • Hematology
  • Molecular Biology
  • Clinical Biochemistry
  • Medical Laboratory Technology

Cite this

@article{b1066b53008347408d710ab2f528b110,
title = "Clinical manifestation and molecular analysis of three Korean patients with the renal form of pseudohypoaldosteronism type 1",
abstract = "Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1. Here, we describe the clinical and biochemical characteristics of three sporadic cases from two Korean families diagnosed with the renal form of PHA type 1. Mutation analysis of the NR3C2 gene revealed one novel mutation in twin patients and two functional polymorphisms in one patient with unusual clinical symptoms. Our data contribute to a better understanding of the distinct mutations and clinical manifestations of the renal form of PHA type 1.",
keywords = "Hyponatremia, Mineralocorticoid receptors, NR3C2 gene, Pseudohypoaldosteronism",
author = "Hyo-Kyoung Nam and Myung-Hyun Nam and Kim, {Hye Ryun} and Young-Jun Rhie and Yoo, {Kee Hwan} and Lee, {Kee Hyoung}",
year = "2017",
month = "1",
day = "1",
language = "English",
volume = "47",
pages = "83--87",
journal = "Annals of Clinical and Laboratory Science",
issn = "0091-7370",
publisher = "Association of Clinical Scientists",
number = "1",

}

TY - JOUR

T1 - Clinical manifestation and molecular analysis of three Korean patients with the renal form of pseudohypoaldosteronism type 1

AU - Nam, Hyo-Kyoung

AU - Nam, Myung-Hyun

AU - Kim, Hye Ryun

AU - Rhie, Young-Jun

AU - Yoo, Kee Hwan

AU - Lee, Kee Hyoung

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1. Here, we describe the clinical and biochemical characteristics of three sporadic cases from two Korean families diagnosed with the renal form of PHA type 1. Mutation analysis of the NR3C2 gene revealed one novel mutation in twin patients and two functional polymorphisms in one patient with unusual clinical symptoms. Our data contribute to a better understanding of the distinct mutations and clinical manifestations of the renal form of PHA type 1.

AB - Pseudohypoaldosteronism (PHA) type 1 is a rare, heterogeneous disease characterized by hyponatremia and hyperkalemia due to mineralocorticoid resistance. The clinical features of PHA are usually failure to thrive, vomiting, and dehydration in the neonatal period. Heterozygous mutations in the Nuclear receptor subfamily 3, group C, member 2 (NR3C2) gene result in the dominant renal form of PHA type 1. Mutations in the epithelial sodium channel gene result in the more severe, recessive, systemic form of PHA type 1. Here, we describe the clinical and biochemical characteristics of three sporadic cases from two Korean families diagnosed with the renal form of PHA type 1. Mutation analysis of the NR3C2 gene revealed one novel mutation in twin patients and two functional polymorphisms in one patient with unusual clinical symptoms. Our data contribute to a better understanding of the distinct mutations and clinical manifestations of the renal form of PHA type 1.

KW - Hyponatremia

KW - Mineralocorticoid receptors

KW - NR3C2 gene

KW - Pseudohypoaldosteronism

UR - http://www.scopus.com/inward/record.url?scp=85014075411&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85014075411&partnerID=8YFLogxK

M3 - Article

C2 - 28249922

AN - SCOPUS:85014075411

VL - 47

SP - 83

EP - 87

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

SN - 0091-7370

IS - 1

ER -