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Summary
BARTTER SYNDROME, TYPE 2, ANTENATAL BARTS2
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL
241200
OMIM = Online Medalian Inheritance of Men
112
11q24.3
rare
autosomal recessive
mutation in the potassium channel ROMK gene (KCNJ1)
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
constipation
dehydration
developmental delay
diarrhea
failure to thrive
fever
hypokalemia
low birthweight (small for gestational age)
mental retardation
metabolic alkalosis
muscle cramps
nephrocalcinosis
onset, childhood
onset, neonatal
paresthesia
polydipsia (increased drinking)
polyhydramnion (maternal)
polyuria
prematurity, premature delivery
prominent forehead
seizures
short stature
tetany
vomiting
laboratory finding
Chloride increasedamniotic fluid
Prostaglandin E2 increasedserum
Potassium decreasedserum
Calcium increasedurine
Chloride decreasedserum
Potassium increasedurine
Magnesium normal-decreasedserum
Renin activity (PRA) or renin increasedplasma
Aldosterone increasedplasma
Literature
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
Tucci S,et al.Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouseJ Lipid Res581196-2072017
Plecko B,et al.Mutationen im PROSC-Gen als neue Ursache Vitamin-B6-abh+├▒ngiger EpilepsienAPS Fulda 2017002017
Ware TL,et al.Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatmentDev Med Child Neurol565498-5022014
Sudarsanam A,et al.Cirrhosis associated with pyridoxal 5-phosphate treatment of pyridoxamine 5-phosphate oxidase deficiency.JIMD Rep17067-702014
Plecko BPyridoxine and pyridoxalphosphate-dependent epilepsiesHandb Clin Neurol11301811-18172013
Plecko B,et al.Pyridoxine responsiveness in novel mutations of the PNPO geneNeurology82161425-14332014
Goyal M,et al.Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluidPediatr Neurol483227-2312013