Research & Literature

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2.

Morikawa S, Komatsu N, Sakata S, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2015; (24(3)):135-8 doi:10.1297/cpe.24.135.

Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases.

Hanukoglu I, Hanukoglu A

Gene 2016; (579(2)):95-132.

Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene.

Nobel YR, Lodish MB, Raygada M, et al.

Endocrinology, diabetes & metabolism case reports 2016; (2016()):150104 doi:10.1530/EDM-15-0104.

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.

Attia NA, Marzouk YI

Case reports in endocrinology 2016; (2016()):6384697 doi:10.1155/2016/6384697.

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

Bizzarri C, Olivini N, Pedicelli S, et al.

Italian journal of pediatrics 2016; (42(1)):73 doi:10.1186/s13052-016-0282-3.

A novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1.

Tsunogai T, Miyata I, Kotake S, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2016; (25(3)):111-4 doi:10.1297/cpe.25.111.

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

Kawashima Sonoyama Y, Tajima T, Fujimoto M, et al.

Endocrine journal 2017; (64(1)):83-90 doi:10.1507/endocrj.EJ16-0280.

A novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1.

Nishizaki Y, Hiura M, Sato H, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2016; (25(4)):135-138 doi:10.1297/cpe.25.135.

Transient pseudohypoaldosteronism in infancy secondary to urinary tract infection.

Abraham MB, Larkins N, Choong CS, Shetty VB

Journal of paediatrics and child health 2017; (53(5)):458-463 doi:10.1111/jpc.13481.

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC, Fernandes-Rosa F

The Journal of endocrinology 2017; (234(1)):T93-T106 doi:10.1530/JOE-17-0089.

Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature.

Nur N, Lang C, Hodax JK, Quintos JB

Case reports in pediatrics 2017; (2017()):7939854 doi:10.1155/2017/7939854.

Clinical features and molecular basis of pseudohypoaldosteronism type 1.

Tajima T, Morikawa S, Nakamura A

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2017; (26(3)):109-117 doi:10.1297/cpe.26.109.

In systemic pseudohypoaldosteronism type 1 skin manifestations are not rare and the disease is not transient.

Hanukoglu A, Hanukoglu I

Clinical endocrinology 2018; (89(2)):240-241 doi:10.1111/cen.13730.

An infant with hyponatremia, hyperkalemia, and metabolic acidosis associated with urinary tract infection: Answers.

Atmis B, Turan İ, Melek E, Bayazit AK

Pediatric nephrology (Berlin, Germany) 2019; (34(10)):1739-1741 doi:10.1007/s00467-019-04254-2.

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.

Adachi M, Tajima T, Muroya K

CEN case reports 2020; (9(2)):133-137 doi:10.1007/s13730-019-00441-0.

When salt is needed to grow: Answers.

Conversano E, Romano S, Taddio A, et al.

Pediatric nephrology (Berlin, Germany) 2021; (36(5)):1131-1132 doi:10.1007/s00467-020-04647-8.

Treatment of Renin-Angiotensin-Aldosterone System Dysfunction With Angiotensin II in High-Renin Septic Shock.

Chow JH, Wallis M, Lankford AS, et al.

Seminars in cardiothoracic and vascular anesthesia 2021; (25(1)):67-73 doi:10.1177/1089253220949070.

Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism.

Martín-Rivada Á, Argente J, Martos-Moreno GÁ

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(11)):1501-1505.

Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.

Hanukoglu A, Vargas-Poussou R, Landau Z, et al.

The Journal of steroid biochemistry and molecular biology 2020; (204()):105755 doi:10.1016/j.jsbmb.2020.105755.

Secondary Pseudohypoaldosteronism Associated With Mild Hydronephrosis in a Newborn.

Kodo K, Goto S, Katsumi Y

Cureus 2021; (13(2)):e13462 doi:10.7759/cureus.13462.

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

Huneif MA, Alhazmy ZH, Shoomi AM, et al.

Journal of clinical research in pediatric endocrinology 2022; (14(2)):244-250 doi:10.4274/jcrpe.galenos.2021.2020.0175.

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.

Serra G, Antona V, D'Alessandro MM, et al.

Italian journal of pediatrics 2021; (47(1)):138 doi:10.1186/s13052-021-01080-x.

Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.

Abdalla A, Alhassan MA, Tawfeeg R, et al.

Endocrinology, diabetes & metabolism case reports 2021; (2021()).

Pseudohypoaldosteronism Type 1: The Presentation and Management of a Neonate With a Novel Mutation of the SCNN1B Gene Found in Two Hispanic Siblings.

Pugh CP

Cureus 2022; (14(4)):e23918 doi:10.7759/cureus.23918.

A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.

Coelho Almeida A, Bastos Gomes M, Martins SA, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(11)):1448-1452 doi:10.1515/jpem-2022-0201.

Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report.

Mendes LC, de Oliveira Magalhães R, Pereira Dos Santos RK, Araújo RS

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(11)):1437-1442 doi:10.1515/jpem-2021-0626.

Transient pseudohypoaldosteronism in infancy mainly manifested as poor appetite and vomiting: Two case reports and review of the literature.

Tuoheti Y, Zheng Y, Lu Y, et al.

Frontiers in pediatrics 2022; (10()):895647 doi:10.3389/fped.2022.895647.

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Joshi K, Verma PK, Barman M

EJIFCC 2022; (33(3)):268-273.

Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I.

Alkhatib EH, Bartlett D, Kanakatti Shankar R, et al.

Frontiers in endocrinology 2023; (14()):1297335 doi:10.3389/fendo.2023.1297335.

Autosomal Dominant Pseudohypoaldosteronism Type 1 in a Newborn With Failure to Thrive.

Krishna S, Augustian M

Cureus 2024; (16(4)):e59356 doi:10.7759/cureus.59356.

Novel homozygous mutation in SCNN1A gene in an Iranian boy with PHA1B.

Saffari F, Bahadoran E, Homaei A, Moghbelinejad S

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(8)):745-749 doi:10.1515/jpem-2023-0505.

Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.

Alquraishi A, Alshahrany A, Alasmari BG, et al.

Cureus 2024; (16(8)):e67165 doi:10.7759/cureus.67165.

Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.

Calissendorff J, Falhammar H

Endocrine 2025; (87(3)):1285-1290 doi:10.1007/s12020-024-04120-8.

Neonatal pseudo-hypoaldosteronism type 1 with a novel NR3C2 gene variant.

Barsoum Z

Sudanese journal of paediatrics 2024; (24(2)):180-182 doi:10.24911/SJP.106-1671202254.

The first report of a gross deletion in the SCNN1G gene in a case presenting with hyponatremic convulsion at fifth year of treatment.

Bolaç Özyılmaz LG, Türkyılmaz A, Akbay ÖP, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(3)):297-302 doi:10.1515/jpem-2025-0372.

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins.

Wang Z, Long L, Bi H

Molecular genetics & genomic medicine 2026; (14(1)):e70173 doi:10.1002/mgg3.70173.