ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2017
Clinical features and molecular basis of pseudohypoaldosteronism type 1.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 33 citations in OpenAlex.
- Congenital aldosterone deficiency and its resistance.Endocrine journal · 2026Review
- Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.Translational pediatrics · 2026Article
- Article
- Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.Journal of clinical medicine · 2025Article
- Renal pseudohypoaldosteronism type 1-an adult case series including a novel gene variant.Endocrine · 2025Article
- Case Report: Functional investigation of the γENaC G532S mutation presenting as mild PHA-1B3.Frontiers in medicine · 2025Article
- Infectious Bursal Disease Virus in Algeria: Persistent Circulation of Very Virulent Strains in Spite of Control Efforts.Animals : an open access journal from MDPI · 2024Article
- Three-Dimensional Bioprinting: A Comprehensive Review for Applications in Tissue Engineering and Regenerative Medicine.Bioengineering (Basel, Switzerland) · 2024Review
- Mice lacking γENaC palmitoylation sites maintain benzamil-sensitive Na+ transport despite reduced channel activity.JCI insight · 2023Article
- Genetic Diagnosis and Treatment of Inherited Renal Tubular Acidosis.Kidney diseases (Basel, Switzerland) · 2023Review
- Brugada syndrome uncovered in patient with pseudohypoaldosteronism due to hyperkalaemia.BMJ case reports · 2023Article
- Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.Archives of endocrinology and metabolism · 2023Review
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- Reciprocal interaction between vascular niche and sweat gland promotes sweat gland regeneration.Bioactive materials · 2023Article
- When salt is needed to grow: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Article
- ENaC expression correlates with the acute furosemide-induced KPhysiological reports · 2021Article
- Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.Endocrinology, diabetes & metabolism case reports · 2021Article
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.CEN case reports · 2020Review
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Authors and funding
3 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long salt loss in multiple target tissues, such as sweat glands, salivary glands, the colonic epithelium, and the lung. In the systemic form of PHA1, life-long salt supplementation is necessary. The second type is the renal form, where aldosterone resistance is shown only in the kidney, and its inheritance is autosomal dominant. In the renal form of PHA1, salt supplementation generally becomes unnecessary by 1-3 yr of age. The third type is the secondary PHA1, which is strongly associated with urinary tract infections and/or urinary tract malformations. This review summarizes the clinical features and molecular basis of PHA1. Understanding of its pathogenesis can be helpful for the early diagnosis and clinical care of affected children with PHA1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.