Evidence map›Paper›PMID 39614070›Full record

ArticleEndocrine2025

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

Jan Calissendorff, Henrik Falhammar

Abstract readCase Reports
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In one paragraph

Article in Endocrine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Jan CalissendorffDepartment of Endocrinology, Karolinska University Hospital, Stockholm, Sweden. jan.calissendorff@ki.se.ORCID 0000-0003-2088-5814
Henrik FalhammarDepartment of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.ORCID 0000-0002-5622-6987

Funding

Magnus Bergvalls Stiftelse 2021-04226
6 · The paper itself

Abstract

purposeRenal pseudohypoaldosteronism type 1 (PHA1) is a rare disease affecting infants. Symptoms are failure to thrive, vomiting, and weight loss. It is caused by gene variants in NR3C2 by which the mineralocorticoid receptor is dysfunctional, and patients develop hyponatremia, elevated plasma aldosterone, and renin but have normal blood pressure. Little is known about PHA1 in adults. We present four adults with PHA1, their clinical, biochemistry, and genetic data.

methodsClinical and biochemical data were collected from the medical files and clinical examination of the participants. Genetic testing was performed.

resultsTwo adult dizygotic twins and their mother, as well as an adult man were included. One of the sisters and the man had had severe hyponatremia and been admitted several times as young infants, treated with sodium chloride and fludrocortisone. All had as adults elevated plasma aldosterone and normal sodium. The females now had normal plasma renin, but it was increased in the male. A novel genetic variant in NR3C2 was found in the twins and their mother (c.1816T>C, p.(Cys606Arg)). All had normal blood pressure and were asymptomatic.

conclusionIn adulthood, PHA1 seems to be asymptomatic and long-term consequences favorable.

Indexed as

PseudohypoaldosteronismReceptors, MineralocorticoidAdultAldosteroneFemaleHumansMaleMiddle AgedReninTwins, DizygoticAldosteroneNR3C2 protein, humanReceptors, MineralocorticoidReninGene variantsLong-termSalt-wastingSymptoms

Identifiers

PMID39614070

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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.