ArticleClinical and experimental nephrology2012
Gitelman syndrome: novel mutation and long-term follow-up.
Article in Clinical and experimental nephrology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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.
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.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Two Brothers from Macedonia with Gitelman Syndrome.Balkan journal of medical genetics : BJMG · 2023Article
- A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.Journal of endocrinological investigation · 2021Article
- Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome.Frontiers in pediatrics · 2021Article
- A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Genes & genomics · 2020Review
- Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.Case reports in medicine · 2019Article
- A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.BMC medical genetics · 2018Article
- Mutation profile and treatment of Gitelman syndrome in Chinese patients.Clinical and experimental nephrology · 2017Article
- Comment on Gitelman's syndrome: Rare presentation with growth retardation.Indian journal of nephrology · 2014Article
- Gitelman syndrome combined with complete growth hormone deficiency.Annals of pediatric endocrinology & metabolism · 2013Article
- Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report.Journal of medical case reports · 2012Article
- Gitelman syndrome in an infant.Indian journal of nephrologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.
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Registered trials
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.