Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Insights into TNXB-Related Classical-Like Ehlers-Danlos Syndrome: A Study of Polish Patients.

Open access rheumatology : research and reviews·2026
Same author

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review.

Orphanet journal of rare diseases·2026
Same author

Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review.

Journal of applied genetics·2026
Same author

Functional analysis of a novel variant in the <i>COL5A1</i> gene in a Polish patient with the classical type of Ehlers-Danlos syndrome.

Frontiers in genetics·2025
Same author

Germline predisposition to acute myeloid leukemia in polish patients.

Leukemia & lymphoma·2025
Same author

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

The application of clinical genetics·2025

Related Experiment Video

Updated: Sep 24, 2025

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
08:43

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

Published on: May 31, 2016

19.7K

Gitelman syndrome with normocalciuria - a case report.

Mariusz Flisiński1, Ewa Skalska2, Barbara Mączyńska2

  • 1Department of Nephrology, Hypertension and Internal Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Toruń, ul. Curie-Skłodowskiej 9, 85-094, Bydgoszcz, Poland. mflisinski@cm.umk.pl.

BMC Nephrology
|May 5, 2022
PubMed
Summary

Gitelman Syndrome typically presents with low urinary calcium. This case report details the first Caucasian woman with genetically confirmed Gitelman Syndrome exhibiting normal urinary calcium levels, challenging previous assumptions.

Keywords:
A case-reportAldosteroneGitelman syndromeNormocalciuriaTubulopathyUrinary calcium excretion

More Related Videos

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

13.6K
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.1K

Related Experiment Videos

Last Updated: Sep 24, 2025

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation
08:43

Calcification of Vascular Smooth Muscle Cells and Imaging of Aortic Calcification and Inflammation

Published on: May 31, 2016

19.7K
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

13.6K
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.1K

Area of Science:

  • Nephrology
  • Genetics
  • Endocrinology

Background:

  • Gitelman Syndrome (GS) is an inherited kidney disorder caused by mutations in the SLC12A3 gene, affecting the thiazide-sensitive sodium-chloride cotransporter.
  • Classic GS symptoms include hypokalemia, metabolic alkalosis, hypomagnesemia, and notably, low urinary calcium excretion (hypocalciuria).
  • Hypocalciuria is considered a distinguishing feature of GS, differentiating it from Bartter syndrome, which presents with hypercalciuria.

Observation:

  • A 28-year-old Caucasian woman presented with asymptomatic hypokalemia, hypomagnesemia, hypochloremic alkalosis, and paradoxically, normal urinary calcium excretion.
  • She exhibited elevated renin levels with normal aldosterone concentrations and low blood pressure.
  • Genetic analysis confirmed two heterozygous mutations in the SLC12A3 gene, establishing the diagnosis of Gitelman Syndrome.

Findings:

  • This is the first reported case of genetically confirmed Gitelman Syndrome presenting with normocalciuria in a Caucasian woman.
  • The findings suggest that sex hormones may not play a definitive role in regulating calciuria levels in GS patients.
  • A potential link between aldosterone levels and urinary calcium excretion in GS patients is hypothesized, given the observed normal aldosterone despite high renin.

Implications:

  • Challenges the long-held belief that hypocalciuria is a universal hallmark of Gitelman Syndrome.
  • Suggests a potential re-evaluation of diagnostic criteria and understanding of GS pathophysiology.
  • Highlights the complex interplay of hormones, genetics, and ion transport in kidney tubule disorders.