Bartter - Gitelmann Subregistry

General information

The Bartter and Gitelman sub-registry is one of the more recent additions to the ERKNet registry system. It focuses on inherited tubulopathies affecting the distal nephron, specifically various types of Bartter and Gitelman syndromes. The sub-registry supports clinicians and researchers in collecting structured data to better understand disease patterns, treatment outcomes, and long-term prognosis. 

Bartter syndrome is a group of rare inherited disorders caused by defects in the thick ascending limb of Henle’s loop, whereas Gitelman syndrome is associated with defects in the distal convoluted tubule. This sub-registry also includes atypical phenotypes resembling Gitelman syndrome, such as mitochondrial variants, Claudin-10-associated tubulopathy, and mutations in renal potassium channels KCNJ10 and KCNJ16. 

Objectives

Main Objectives:

  1. Collect standardized data on epidemiology, diagnosis, and treatment of Bartter and Gitelman syndromes.

  2. Identify patient cohorts with unresolved cases

  3. Monitor therapy strategies (e.g., electrolyte supplementation, NSAIDs) and related side effects.

  4. Assess long-term outcomes such as proteinuria, renal function and CKD progression.

  5. Enable genotype–phenotype correlation studies

 

Research Questions:

  1. What factors contribute to the development of chronic kidney disease (CKD) in Bartter and Gitelman syndromes?

  2. What are the long-term effects of treatments on renal outcomes?

  3. How do genetic subtypes influence disease severity and progression?

  4. What is the quality of life in patients with Bartter and Gitelman syndromes over time?

Data collection

Inclusion and Exclusion Criteria

Population Characteristics: Paediatric and adolescent patients with genetically confirmed or suspected Bartter or Gitelman syndromes. 

Inclusion Criteria: Patients with clinical and/or genetic diagnosis of Bartter or Gitelman syndrome.

Exclusion Criteria:

  • Patients without a tubulopathy diagnosis.
  • Adults only if included during paediatric phase or already followed longitudinally.

The registry collects both retrospective and prospective data:

  1. Demographic/Basic Data:

    1. Birthdate, sex, diagnosis, neonatal history: acute renal failure (ARF) in antenatal Bartter syndrome.

    2. Clinical symptoms.

    3. Basic biochemical values (electrolytes, renal function).

  2. Medications:

    1. Electrolyte supplementation (specific salts/doses).

    2. NSAIDs or COX-2 inhibitors if applicable.

  3. Visit Data / Follow-up:

    1. Renal function monitoring.

    2. Proteinuria.

    3. Optional values: renin, aldosterone.

User manual

To view the user manual, click here.

User Training Day | 5th March 2025

The first ERKReg Bartter - Gitelmann Subregistry User Day was held virtually on 13th May. The event attracted more than 50 participants and provide an in-depth introduction to the Subregistry, discuss its research potential, and offer advanced training on its specifications. 

Recording avaliable click to watch

PDF Slides here

Contact Person

Prof. Karl Peter Schlingmann, University of Münster, Germany
Email: karlpeter.schlingmann@ukmuenster.de