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Summary
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT BARTS5
300971
OMIM = Online Medalian Inheritance of Men
112
Xp11.21
rare
X-linked recessive
mutation in the MAGED2 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
nephrocalcinosis
onset, neonatal
polyhydramnion (maternal)
polyuria
prematurity, premature delivery
laboratory finding
Chloride increasedamniotic fluid
Sodium decreasedserum
Chloride decreasedserum
Potassium decreasedserum
Renin activity (PRA) or renin increasedplasma
Aldosterone increasedserum
Prostaglandin E2 increasedserum
Calcium increasedurineNeonatal
Literature
Adly AA1,Ismail EA, Ibraheem TMMacrophage-derived soluble CD163 level in young patients with Gaucher disease: relation to phenotypes, disease severity and complicationsInt Immunopharmacol242416-4222015
van Karnebeek CD,et al.Pyridoxine-Dependent Epilepsy: An Expanding Clinical SpectrumPediatr Neurol5906-122016
Al-Naamani N,et al.Imatinib as rescue therapy in a patient with pulmonary hypertension associated with Gaucher diseaseChest1463e81-832014
Stirnemann J,et al.A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsInt J Mol Sci1822017
de Boer GM,et al.Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and CharybdisChest1491e1-52016