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Summary
PSEUDOHYPOALDOSTERONISM, TYPE IIB (PHA2B)
614491
OMIM = Online Medalian Inheritance of Men
757
17q21.2
rare
autosomal dominant
mutation in the WNK4 gene
PHA types:
Type IIA (PHA2A): Unknown genetic cause (OMIM 145260)
Type IIB (PHA2B): WNK4 (OMIM 614491)
Type IIC (PHA2C): WNK1 (OMIM 614492)
Type IID (PHA2D): KLHL3 (OMIM 614495)
Type IIE (PHA2E): CUL3 (OMIM 614496)
symptoms
hyperchloremic acidosis
hyperkalemia
hypertension
metabolic acidosis
laboratory finding
Bicarbonate18.5023.10 decreasedserum
Potassium5.707.10 increasedserum
Chloride increasedserum
Literature
Hoffjan S,et al.MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future ProspectsMol Syndromol6258-622015
Gartner V,McGuire PJ, Lee PRChild Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiencyNeurology854e37-402015