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Summary
BARTTER SYNDROME, TYPE 3 BARTS3
BARTTER SYNDROME, CLASSIC
607364
OMIM = Online Medalian Inheritance of Men
112
1p36.13
rare
autosomal recessive
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
dehydration
failure to thrive
hypokalemia
metabolic alkalosis
muscle weakness
onset, childhood
onset, variable age
polyuria
vomiting
laboratory finding
Sodium increasedserum
Potassium decreasedserum
Chloride decreasedserum
Potassium increasedurine
Chloride increasedurine
Aldosterone increasedplasma
Renin activity (PRA) or renin increasedplasma
Literature
Mercimek-Mahmutoglu S,et al.Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsyPediatrics1295e1368-13722012
Coughlin CR 2nd,et al.Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcomeMol Genet Metab116135-432015
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
G+€l-Mert G,et al.Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literatureTurk J Pediatr574394-3972015
Mills PB,et al.Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Brain13372148-21592010
Stockler S,et al.Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-upMol Genet Metab104148-602011