Cargando…
Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2
Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639533/ https://www.ncbi.nlm.nih.gov/pubmed/26594094 http://dx.doi.org/10.1297/cpe.24.135 |
_version_ | 1782399931308310528 |
---|---|
author | Morikawa, Shuntaro Komatsu, Nagisa Sakata, Sonoko Nakamura-Utsunomiya, Akari Okada, Satoshi Tajima, Toshihiro |
author_facet | Morikawa, Shuntaro Komatsu, Nagisa Sakata, Sonoko Nakamura-Utsunomiya, Akari Okada, Satoshi Tajima, Toshihiro |
author_sort | Morikawa, Shuntaro |
collection | PubMed |
description | Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the renal form of PHA1 and analyzed NR3C2. The two patients had poor weight gain, and one was developmentally delayed. Genetic analysis identified one novel mutation (c.492_493insTT, p.Met166LeufsX8) and one previously reported mutation (p.R861X). The two produced a premature stop codon, resulting in haploinsufficiency of the MR. In conclusion, genetic analysis of NR3C2 is useful for diagnosis and planning therapeutic strategies. |
format | Online Article Text |
id | pubmed-4639533 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-46395332015-11-20 Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2 Morikawa, Shuntaro Komatsu, Nagisa Sakata, Sonoko Nakamura-Utsunomiya, Akari Okada, Satoshi Tajima, Toshihiro Clin Pediatr Endocrinol Case Report Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the renal form of PHA1 and analyzed NR3C2. The two patients had poor weight gain, and one was developmentally delayed. Genetic analysis identified one novel mutation (c.492_493insTT, p.Met166LeufsX8) and one previously reported mutation (p.R861X). The two produced a premature stop codon, resulting in haploinsufficiency of the MR. In conclusion, genetic analysis of NR3C2 is useful for diagnosis and planning therapeutic strategies. The Japanese Society for Pediatric Endocrinology 2015-07-18 2015-07 /pmc/articles/PMC4639533/ /pubmed/26594094 http://dx.doi.org/10.1297/cpe.24.135 Text en 2015©The Japanese Society for Pediatric Endocrinology http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. |
spellingShingle | Case Report Morikawa, Shuntaro Komatsu, Nagisa Sakata, Sonoko Nakamura-Utsunomiya, Akari Okada, Satoshi Tajima, Toshihiro Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2 |
title | Two Japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of NR3C2 |
title_full | Two Japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of NR3C2 |
title_fullStr | Two Japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of NR3C2 |
title_full_unstemmed | Two Japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of NR3C2 |
title_short | Two Japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of NR3C2 |
title_sort | two japanese patients with the renal form of pseudohypoaldosteronism type 1
caused by mutations of nr3c2 |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639533/ https://www.ncbi.nlm.nih.gov/pubmed/26594094 http://dx.doi.org/10.1297/cpe.24.135 |
work_keys_str_mv | AT morikawashuntaro twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 AT komatsunagisa twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 AT sakatasonoko twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 AT nakamurautsunomiyaakari twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 AT okadasatoshi twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 AT tajimatoshihiro twojapanesepatientswiththerenalformofpseudohypoaldosteronismtype1causedbymutationsofnr3c2 |