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/

• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
• Allelic: Brachyolmia type 3 (TRPV4)
• Allelic: Bronchiectasis with or without elevated sweat chloride 1 (SCNN1B)
• Allelic: Bronchiectasis with or without elevated sweat chloride 2 (SCNN1A)
• Allelic: Bronchiectasis with or without elevated sweat chloride 3 (SCNN1G)
• Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
• Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
• Allelic: Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
• Allelic: Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
• Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Allelic: Hyperparathyroidism, neonatal (CASR)
• Allelic: Leukoencephalopathy with ataxia (CLCN2)
• 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)
• Allelic; Long QT syndrome 13 (KCNJ5)
• Apparent mineralocorticoid excess (HSD11B2)
• 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)
• Enlarged vestibular aqueduct, digenic (KCNJ10)
• Gitelman syndrome (SLC12A3)
• HELIX syndrome (CLDN10)
• Hyperaldosteronism, familial, type II (CLCN2)
• Hyperaldosteronism, familial, type III (KCNJ5)
• Hyperaldosteronism, familial, type IV (CACNA1H)
• Hypertension, early-onset, AD, with exacerbation in pregnancy (NR3C2)
• Hypocalcaemia, AD, with/-out Bartter syndrome (CASR)
• Hypocalciuric hypercalcemia, type I (CASR)
• Liddle syndrome 1 (SCNN1B)
• Liddle syndrome 2 (SCNN1G)
• Liddle syndrome 3 (SCNN1A)
• Pseudohypoaldosteronism type I, AD (NR3C2)
• Pseudohypoaldosteronism, type IB1, AR (SCNN1A)
• Pseudohypoaldosteronism, type IB2, AR (SCNN1B)
• Pseudohypoaldosteronism, type IB3, AR (SCNN1G)
• SESAME syndrome (KCNJ10)
• Sodium serum level QTL 1 (TRPV4)