An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of <i>NR3C2</i>-Reference-Cited by-同舟云学术

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An infantile case of pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation of NR3C2

Published:2020 Issue:3 Volume:29 Page:127-130
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Goda Takeshi¹²,Komatsu Hiroshi²,Nozu Kandai³,Nakajima Hisakazu²⁴

Affiliation:

1. Department of Pediatrics, Kyoto Chubu Medical Center, Kyoto, Japan

2. Department of Pediatrics, National Hospital Organization Maizuru Medical Center, Kyoto, Japan

3. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan

4. Department of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Kyoto, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

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

Link

https://www.jstage.jst.go.jp/article/cpe/29/3/29_2020-0024/_pdf

Reference13 articles.

1. 1. Riepe, FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72: 1–9.

2. 2. Cheek, DB, Perry, JW. A salt wasting syndrome in infancy. Arch Dis Child 1958;33: 252–6.

3. 3. Geller, DS, Rodriguez-Soriano, J, Vallo Boado, A, Schifter, S, Bayer, M, Chang, SS, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19: 279–81.

4. 4. Riepe, FG, Finkeldei, J, de Sanctis, L, Einaudi, S, Testa, A, Karges, B, et al. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab 2006;91: 4552–61.

5. 5. Zennaro, MC, Fernandes-Rosa, F. 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations. J Endocrinol 2017;234: T93–106.

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