Pseudohypoaldosteronism, Type Iia; Pha2a

Description

Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (OMIM ) activity are variable associated findings (summary by Mansfield et al., 1997). Genetic Heterogeneity of Pseudohypoaldosteronism Type IIPHA2A has been mapped to chromosome 1q31-q42. PHA2B (OMIM ) is caused by mutations in the WNK4 gene on chromosome 17q21 (OMIM ). PHA2C (OMIM ) is caused by mutations in the WNK1 gene on chromosome 12p13 (OMIM ). PHA2D (OMIM ) is caused by mutations in the KLHL3 gene (OMIM ) on chromosome 5q31. PHA2E (OMIM ) is caused by mutations in the CUL3 gene (OMIM ) on chromosome 2q36.Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).

Clinical Features

• Short stature
• Growth delay
• Muscle weakness
• Cognitive impairment
• Hypertension
• Abnormality of the dentition
• Acidosis
• Paralysis
• Nausea and vomiting
• Metabolic acidosis

And another 12 symptoms. If you need more information about this disease we can help you.