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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBartter syndrome type 1-4, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Bartter syndrome type 1-4a/b comprising 9 curated genes according to the clinical signs

ID
BP1290
Number of genes
6 Accredited laboratory test
Examined sequence length
11,8 kb (Core-/Core-canditate-Genes)
13,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BSND963AR
CASR3237AD, AR
KCNJ11176AR
SLC12A13300AR
SLC12A33093AR
MAGED21832XLR

Informations about the disease

Clinical Comment

Bartter syndrome includes a group of tubulopathies with normo- or hypercalcuria, hypokalemia and normo-magnesemia, which in some cases present with polyhydramnios before birth. In infancy, affected individuals often develop failure to thrive with dehydration, constipation, polyuria, osteopenia and nephrocalcinosis. Clinically, two main forms of Bartter syndrome differ in symptom onset and severity. The prevalence is approximately 1/1000000 worldwide. The syndrome may be caused by mutations in at least 5 genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene and type III involves the mutated CLCNKB gene. Type IV may result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes. Thus in addition to autosomal recessive inheritance the digenic mode may be involved. In some patients with Bartter syndrome, the genetic cause of the disorder remains unknown (although other genes are usually included for differential diagnosis), so a negative molecular genetic result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1338/

https://pubmed.ncbi.nlm.nih.gov/32488762/

 

Synonyms
  • Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Allelic: Brachyolmia type 3 (TRPV4)
  • Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Hyperparathyroidism, neonatal (CASR)
  • Allelic: Metatropic dysplasia (TRPV4)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Parastremmatic dwarfism (TRPV4)
  • Allelic: SED, Maroteaux type (TRPV4)
  • Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
  • Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Bartter syndrome, type 1 (SLC12A1)
  • Bartter syndrome, type 2 (KCNJ1)
  • Bartter syndrome, type 3 (CLCNKB)
  • Bartter syndrome, type 4a (BSND)
  • Bartter syndrome, type 4b, digenic (CLCNKA)
  • Bartter syndrome, type 4b, digenic (CLCNKB)
  • Bartter syndrome, type 5, antenatal, transient (MAGED2)
  • Gitelman syndrome (SLC12A3)
  • Hypocalcaemia, AD, with/-out Bartter syndrome (CASR)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Sodium serum level QTL 1 (TRPV4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N28.-

Bioinformatics and clinical interpretation

No text defined