ArticleTherapeutics and clinical risk management2018
Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report.
Article in Therapeutics and clinical risk management, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Case Report. Diagnostic Challenges: Liver Metastases from Mammary Gland Origin or Cholangiocarcinoma?International journal of women's health · 2023Article
- Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.Medicina (Kaunas, Lithuania) · 2022Article
- Clinical Factors Associated with Serum Magnesium Concentration in Patients Undergoing Peritoneal Dialysis: A Single-Center Observational Study.International journal of nephrology and renovascular disease · 2022Article
- Three Novel Homozygous Mutations of theInternational journal of general medicine · 2021Article
- A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.Genes & genomics · 2020Review
- Identification of Genetic Factors Underlying the Association between Sodium Intake Habits and Hypertension Risk.Nutrients · 2020Article
- CHARGE syndrome associated withExperimental and therapeutic medicine · 2020Article
- Novel heterozygous missense mutation ofWorld journal of clinical cases · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. PATIENT AND
methodsThis paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations. Family history revealed a consanguineous family with autosomal-recessive transmission of GS with two cases over five generations.
resultsNext-generation sequencing technology detected two different homozygous mutations c.1805_1806delAT and c.2660+1G>A in the
conclusionClinicians should be aware of the existence of GS, manage the condition properly and consider the risk of disease recurrence to the next generations.
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