Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0020438 (
hypercalciuria
)
2,502
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pseudohypoaldosteronism (PHA) type II is an extremely rare disorder which presents with hypertension, hyperkalemia, and normal anion gap metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension, Gordon syndrome, and chloride shunt syndrome. PHA II is an autosomal dominant disorder and is caused by mutation in WNK1, WNK4, CULLIN3, KLHL3, OSR, SPAK gene. The expression of these proteins is limited to the distal convoluted tube and collecting duct of the kidney. PHA II usually responds to salt restriction and thiazide diuretics. We are reporting here a case of 16-year girl who presented with generalised fatigue and
shortness of breath
, and blood pressure (BP) of 220/110 mmHg. Laboratory investigation showed hyperkalemia, normal anion gap metabolic acidosis, and
hypercalciuria
. Workup for secondary causes of hypertension was negative. She responded to thiazide diuretics and her BP is well controlled, and acidosis and hyperkalemia are corrected.
...
PMID:Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis. 2948 94
