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Summary
BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS BARTS4A
BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS BSND
602522
OMIM = Online Medalian Inheritance of Men
112
1p32.3
rare
autosomal recessive
mutation in the BSND gene
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
metabolic alkalosis
motor retardation
onset, neonatal
polyhydramnion (maternal)
polyuria
prematurity, premature delivery
renal failure, acute/chronic
laboratory finding
Potassium decreasedserum
Sodium decreasedserum
Chloride decreasedserum
Prostaglandin E2 urine
Sodium increasedurine
Potassium increasedurine
Chloride increasedurine
Renin activity (PRA) or renin increasedplasma
Aldosterone increasedplasma
Literature
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
Pena LD,et al.Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS databaseMol Genet Metab1184272-2812016
Evans M,et al.VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in VictoriaMol Genet Metab1184282-2872016
Sedgwick EREarly presentation of very long chain acyl-CoA dehydrogenase deficiency: nursing action resulting in a positive outcomeJ Pediatr Nurs284379-3822013
Tenopoulou M,et al.Strategies for correcting very long chain acyl-CoA dehydrogenase deficiencyJ Biol Chem2901610486-942015
Redshaw C,Stewart CAnesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature reviewPaediatr Anaesth24111115-11192014
Katz S,et al.Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literatureMol Genet Metab Rep1005-72016
Men+®ndez Suso JJ,et al.Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapyJ Pediatr1613557-5592012