Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene

Lindsey A Loomba-Albrecht, Mato Nagel, Andrew A. Bremer

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background/Aims: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally highlights the importance of aldosterone-sensitive sodium transport in the neonatal period. Patient and Methods: The patient presented with salt loss, hyperkalemia and a mild metabolic acidosis in the neonatal period (day of life 8). Further evaluation revealed significantly elevated levels of 18-hydroxycorticosterone, aldosterone and plasma renin activity, suggesting the diagnosis of pseudohypoaldosteronism. Results: Analysis of the patient's NR3C2 gene revealed a novel missense mutation (c.1817G>C), which was subsequently analyzed in his parents and sister. Interestingly, the patient's mother was found to have an identical mutation. Conclusion: We report a novel mutation in the gene for the mineralocorticoid receptor and an unusual clinical course of pseudohypoaldosteronism type 1 in an adequately treated patient.

Original languageEnglish (US)
Pages (from-to)482-486
Number of pages5
JournalHormone Research in Paediatrics
Volume73
Issue number6
DOIs
StatePublished - May 2010

Fingerprint

Pseudohypoaldosteronism
Mineralocorticoid Receptors
Mutation
Hyperkalemia
Genes
Aldosterone
18-Hydroxycorticosterone
Failure to Thrive
Hyponatremia
Missense Mutation
Acidosis
Renin
Siblings
Salts
Parents
Sodium
Mothers
Newborn Infant

Keywords

  • Fludrocortisone
  • Mineralocorticoid resistance
  • NR3C2
  • Pseudohypoaldosteronism

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Cite this

Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene. / Loomba-Albrecht, Lindsey A; Nagel, Mato; Bremer, Andrew A.

In: Hormone Research in Paediatrics, Vol. 73, No. 6, 05.2010, p. 482-486.

Research output: Contribution to journalArticle

@article{05784d118cbe48db923e1c470464bc6a,
title = "Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene",
abstract = "Background/Aims: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally highlights the importance of aldosterone-sensitive sodium transport in the neonatal period. Patient and Methods: The patient presented with salt loss, hyperkalemia and a mild metabolic acidosis in the neonatal period (day of life 8). Further evaluation revealed significantly elevated levels of 18-hydroxycorticosterone, aldosterone and plasma renin activity, suggesting the diagnosis of pseudohypoaldosteronism. Results: Analysis of the patient's NR3C2 gene revealed a novel missense mutation (c.1817G>C), which was subsequently analyzed in his parents and sister. Interestingly, the patient's mother was found to have an identical mutation. Conclusion: We report a novel mutation in the gene for the mineralocorticoid receptor and an unusual clinical course of pseudohypoaldosteronism type 1 in an adequately treated patient.",
keywords = "Fludrocortisone, Mineralocorticoid resistance, NR3C2, Pseudohypoaldosteronism",
author = "Loomba-Albrecht, {Lindsey A} and Mato Nagel and Bremer, {Andrew A.}",
year = "2010",
month = "5",
doi = "10.1159/000281290",
language = "English (US)",
volume = "73",
pages = "482--486",
journal = "Hormone Research in Paediatrics",
issn = "1663-2818",
publisher = "S. Karger AG",
number = "6",

}

TY - JOUR

T1 - Pseudohypoaldosteronism type 1 due to a novel mutation in the mineralocorticoid receptor gene

AU - Loomba-Albrecht, Lindsey A

AU - Nagel, Mato

AU - Bremer, Andrew A.

PY - 2010/5

Y1 - 2010/5

N2 - Background/Aims: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally highlights the importance of aldosterone-sensitive sodium transport in the neonatal period. Patient and Methods: The patient presented with salt loss, hyperkalemia and a mild metabolic acidosis in the neonatal period (day of life 8). Further evaluation revealed significantly elevated levels of 18-hydroxycorticosterone, aldosterone and plasma renin activity, suggesting the diagnosis of pseudohypoaldosteronism. Results: Analysis of the patient's NR3C2 gene revealed a novel missense mutation (c.1817G>C), which was subsequently analyzed in his parents and sister. Interestingly, the patient's mother was found to have an identical mutation. Conclusion: We report a novel mutation in the gene for the mineralocorticoid receptor and an unusual clinical course of pseudohypoaldosteronism type 1 in an adequately treated patient.

AB - Background/Aims: Autosomal dominant pseudohypoaldosteronism type 1 is caused by mutations in the mineralocorticoid receptor (NR3C2) gene, often leading to life-threatening hyponatremia and hyperkalemia in the newborn period. We report a novel mutation in the NR3C2 gene, and report, for the first time, the association of well-treated pseudohypoaldosteronism with failure to thrive. This report additionally highlights the importance of aldosterone-sensitive sodium transport in the neonatal period. Patient and Methods: The patient presented with salt loss, hyperkalemia and a mild metabolic acidosis in the neonatal period (day of life 8). Further evaluation revealed significantly elevated levels of 18-hydroxycorticosterone, aldosterone and plasma renin activity, suggesting the diagnosis of pseudohypoaldosteronism. Results: Analysis of the patient's NR3C2 gene revealed a novel missense mutation (c.1817G>C), which was subsequently analyzed in his parents and sister. Interestingly, the patient's mother was found to have an identical mutation. Conclusion: We report a novel mutation in the gene for the mineralocorticoid receptor and an unusual clinical course of pseudohypoaldosteronism type 1 in an adequately treated patient.

KW - Fludrocortisone

KW - Mineralocorticoid resistance

KW - NR3C2

KW - Pseudohypoaldosteronism

UR - http://www.scopus.com/inward/record.url?scp=77952315280&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77952315280&partnerID=8YFLogxK

U2 - 10.1159/000281290

DO - 10.1159/000281290

M3 - Article

C2 - 20453518

AN - SCOPUS:77952315280

VL - 73

SP - 482

EP - 486

JO - Hormone Research in Paediatrics

JF - Hormone Research in Paediatrics

SN - 1663-2818

IS - 6

ER -