ArticleBMJ case reports2013
Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed.
Article in BMJ case reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Unmasking the Culprit of Profound Hyponatremia in an Infant.Case reports in pediatrics · 2026Article
- Salt-Losing Syndrome in a Girl with Type I and II Pseudohypoaldosteronism.The American journal of case reports · 2022Article
- Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Frontiers in endocrinology · 2022Review
- Article
- A Case of Salt-Wasting 21-Hydroxylase Deficiency With Resistance to Aldosterone due to Urinary Tract Infection.Cureus · 2020Article
- False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'.BMJ case reports · 2020Article
- Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency.Frontiers in pediatrics · 2020Article
- Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia.Endocrinology, diabetes & metabolism case reports · 2014Article
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Salt-losing crisis with hypoglycaemia and shock are the main manifestations of congenital adrenal hyperplasia (CAH) during the first weeks of life, while hyponatremia and hyperpotassemia alone are seen on mineralocorticoid deficiency or resistance. During the neonatal period, high blood levels of adrenal steroids may lead to confusing laboratory tests not being able to identify the real level of each hormone. A 33-day-old male baby was admitted at the emergency department with severe salt-losing crisis (Na(+) 99 mEq/l and K(+) 9.4 mEq/l) and mild acidosis. No hypoglycaemia or hypotension was seen. Urinary tract infection was excluded. Despite treatment with hydrocortisone and fludrocortisone, hyperpotassemia was hard to control. Laboratory tests could not differentiate between pseudohypoaldosteronism and CAH as both the aldosterone (2454 pg/ml) and 17-OH-progesterone (656.6 ng/ml) levels were high. Diagnosis was made, thanks to the genetic study that proved classical mutations in both alleles of the 21-hydroxylase gene.
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