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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.
PMID
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Authors

Mayor MeshTerms
Keywords

NR3C2 gene

Pseudohypoaldosteronism

hyponatremia

mineralocorticoid receptors

Journal Title annals of clinical and laboratory science
Publication Year Start




PMID- 28249922
OWN - NLM
STAT- MEDLINE
DA  - 20170302
DCOM- 20170313
LR  - 20170313
IS  - 1550-8080 (Electronic)
IS  - 0091-7370 (Linking)
VI  - 47
IP  - 1
DP  - 2017 Jan
TI  - Clinical Manifestation and Molecular Analysis of Three Korean Patients with the
      Renal Form of Pseudohypoaldosteronism Type 1.
PG  - 83-87
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.
CI  - (c) 2017 by the Association of Clinical Scientists, Inc.
FAU - Nam, Hyo-Kyoung
AU  - Nam HK
AD  - Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
FAU - Nam, Myung-Hyun
AU  - Nam MH
AD  - Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, 
      Korea.
FAU - Kim, Hye Ryun
AU  - Kim HR
AD  - Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
FAU - Rhie, Young-Jun
AU  - Rhie YJ
AD  - Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
FAU - Yoo, Kee Hwan
AU  - Yoo KH
AD  - Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
FAU - Lee, Kee-Hyoung
AU  - Lee KH
AD  - Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea
      [email protected]
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann Clin Lab Sci
JT  - Annals of clinical and laboratory science
JID - 0410247
RN  - 0 (NR3C2 protein, human)
RN  - 0 (Receptors, Mineralocorticoid)
SB  - IM
MH  - Asian Continental Ancestry Group/*genetics
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - Disease Progression
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Infant, Newborn
MH  - Kidney/*pathology
MH  - Male
MH  - Mutation/genetics
MH  - Pseudohypoaldosteronism/*genetics
MH  - Receptors, Mineralocorticoid/genetics
OTO - NOTNLM
OT  - NR3C2 gene
OT  - Pseudohypoaldosteronism
OT  - hyponatremia
OT  - mineralocorticoid receptors
EDAT- 2017/03/03 06:00
MHDA- 2017/03/14 06:00
CRDT- 2017/03/03 06:00
AID - 47/1/83 [pii]
PST - ppublish
SO  - Ann Clin Lab Sci. 2017 Jan;47(1):83-87.

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