IllnessBartter syndrome type 1-4, differential diagnosis

NGS +

[Sanger]

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/

• 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)