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Summary
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS BARTS4B
613090
OMIM = Online Medalian Inheritance of Men
112
1p36.13
rare
Digenic recessive
mutation in both the CLCNKA and CLCNKB genes
Types of Bartter syndrome:
- Type I (OMIM 601678)
- Type II (OMIM 241200)
- Type III (OMIM 607364), classic Bartter syndrome
- Type IVA (OMIM 602522)
- Type IVB (OMIM 613090)
- Type V (OMIM 300971)
symptoms
developmental delay
failure to thrive
hearing defect, deafness
hydrops fetalis
hypokalemia
hyporeflexia
hypotonia
mental retardation
motor retardation
polyhydramnion (maternal)
polyuria
prematurity, premature delivery
renal failure, acute/chronic
laboratory finding
Aldosterone increasedplasma
Prostaglandin E2 increasedurine
Potassium increasedurine
Potassium decreasedserum
Sodium increasedurine
Sodium decreasedserum
Chloride decreasedserum
Chloride increasedurine
Renin activity (PRA) or renin increasedplasma
Literature
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
Weinreb NJ,Barbouth DS, Lee RECauses of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapyBlood Cells Mol Dis002016
Roghi A,et al.The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: morphological and functional evaluations.J Cardiovasc Med (Hagerstown)184244-2482017
Leslie ND,et al.Very Long-Chain Acyl-Coenzyme A Dehydrogenase DeficiencyGeneReviews-« InternetGeneReviews-« Internet002009