Visit Metagene.de!
Summary
BARTTER SYNDROME, TYPE 1, ANTENATAL BARTS1
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL
601678
OMIM = Online Medalian Inheritance of Men
112
15q21.1
rare
autosomal recessive
mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1)
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
hypochloremic alkalosis
hypokalemia
low birthweight (small for gestational age)
mental retardation
metabolic alkalosis
muscle cramps
muscle weakness
nephrocalcinosis
onset, childhood
onset, infancy
paresthesia
polyhydramnion (maternal)
polyuria
prematurity, premature delivery
seizures
short stature
tetany
vomiting
laboratory finding
Potassium decreasedserum
Chloride decreasedserum
Renin activity (PRA) or renin increasedplasma
Calcium increasedurine
Sodium increasedurine
Chloride increasedurine
Potassium increasedurine
Chloride increasedamniotic fluid
Aldosterone increasedplasma
Prostaglandin E2 increasedurine
Literature
Coman D,et al.PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?JIMD Rep25071-752016
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
Hatch J,et al.Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature ReviewJIMD Rep26091-972016
Guerin A,et al.Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the LiteratureJ Child Neurol3091218-12252015
Levtova A,et al.Normal Cerebrospinal Fluid Pyridoxal 5-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic EncephalopathyJIMD Rep22067-752015
Mills PB,et al.Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcomeBrain13751350-13602014
Mathis D,et al.The value of plasma vitamin B6 profiles in early onset epileptic encephalopathiesJ Inherit Metab Dis395733-7412016
Veeravigrom M,et al.Pyridoxal 5Û×î-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case reportGenet Mol Res14414130-16132015