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A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation
Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypo...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Japanese Society for Pediatric Endocrinology
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069541/ https://www.ncbi.nlm.nih.gov/pubmed/27780982 http://dx.doi.org/10.1297/cpe.25.127 |
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author | Mitani, Marie Furuichi, Munehiro Narumi, Satoshi Hasegawa, Tomonobu Chiga, Motoko Uchida, Shinichi Sato, Seiji |
author_facet | Mitani, Marie Furuichi, Munehiro Narumi, Satoshi Hasegawa, Tomonobu Chiga, Motoko Uchida, Shinichi Sato, Seiji |
author_sort | Mitani, Marie |
collection | PubMed |
description | Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure. |
format | Online Article Text |
id | pubmed-5069541 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | The Japanese Society for Pediatric Endocrinology |
record_format | MEDLINE/PubMed |
spelling | pubmed-50695412016-10-25 A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation Mitani, Marie Furuichi, Munehiro Narumi, Satoshi Hasegawa, Tomonobu Chiga, Motoko Uchida, Shinichi Sato, Seiji Clin Pediatr Endocrinol Case Report Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient. Further investigations revealed defective secretion of GH and gonadotropins and anterior pituitary gland hypoplasia. Genetic analyses revealed a previously known heterozygous KLHL3 mutation (p.Leu387Pro), but no mutation was detected in 27 genes associated with congenital hypopituitarism. He was treated with sodium restriction and recombinant human GH, which normalized growth velocity. This is the first report of a molecularly confirmed patient with PHA II complicated by congenital hypopituitarism. We speculate that both GH deficiency and metabolic acidosis contributed to growth failure. Endocrinological investigations will help to individualize the treatment of patients with PHA II presenting with growth failure. The Japanese Society for Pediatric Endocrinology 2016-10-18 2016-10 /pmc/articles/PMC5069541/ /pubmed/27780982 http://dx.doi.org/10.1297/cpe.25.127 Text en 2016©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 Mitani, Marie Furuichi, Munehiro Narumi, Satoshi Hasegawa, Tomonobu Chiga, Motoko Uchida, Shinichi Sato, Seiji A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation |
title | A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation |
title_full | A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation |
title_fullStr | A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation |
title_full_unstemmed | A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation |
title_short | A patient with pseudohypoaldosteronism type II complicated by congenital
hypopituitarism carrying a KLHL3 mutation |
title_sort | patient with pseudohypoaldosteronism type ii complicated by congenital
hypopituitarism carrying a klhl3 mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5069541/ https://www.ncbi.nlm.nih.gov/pubmed/27780982 http://dx.doi.org/10.1297/cpe.25.127 |
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