Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Pseudohypoaldosteronism, Type IIA

Alternative Names the catalytic lysine compared to all other protein PHA2A kinases. The function of WNK1 and WNK4 lies in Hyperpotassemia and Hypertension, Familial regulating chloride co-transporters of the distal Hypertensive Hyperkalemia, Familial nephron and further epithelia. Gordon Hyperkalemia-Hypertension Syndrome Epidemiology in the Arab World Record Category Kuwait Disease phenotype Pinto et al. (2003) reported a case of osteopetrosis that was associated with hyperkalemia on WHO-ICD admission to Al-Adan Hospital. He was found later Endocrine, nutritional and metabolic diseases > to suffer from pseudohypoaldosteronism (PHA). Metabolic disorders The patient was a first born child to consanguineous parents with 34 weeks gestation and birth weight of Incidence per 100,000 Live Births 1.865kg. The patients’ extended family of both Unknown parents revealed no family history of a similar condition. The subject suffered from hyperkalemia, OMIM Number high serum aldosterone and rennin levels, normal 145260 cortisol and 17-OH progesterone, renal salt loss and normal sweat electrolytes, and all of these features Mode of Inheritance were found to be compatible with Autosomal Dominant and Autosomal Recessive pseudohypoaldosteronism (PHA) type 1. The case was found to have the autosomal dominant (AD) Gene Map Locus form of PHA type 1, including only the renal 1q31-q42 tubules. Pinto et al. (2003) suggested this to be a new mutation since both parents were tested normal Description for electrolytes. Pseudohypoaldosteronism (PHA) is assigned to a heterogeneous group of disorders of electrolyte References metabolism which is distinguished by a clear state Pinto R, John I, Qabazard Z. Osteopetrosis of renal tubular unresponsiveness or resistance to associated with hyperkalaemia: a case report. the action of aldosterone. The condition is Kuwait Med J. 2003; 35(3): 216-8. described by hyperkalemia, metabolic acidosis and normal glomerular filtration rate (GFR). Several Related CTGA Records features are observed in this condition such as N/A volume depletion or hypervolemia, renal salt wasting or retention, hypotension or hypertension, External Links and elevate, normal or low levels of rennin and http://www.ncbi.nlm.nih.gov/omim/145260 aldosterone. http://emedicine.medscape.com/article/924100- overview Molecular Genetics The molecular basis for patients suffering from Contributors PHA-II is connected to mutations in WNK1 or Lina Walid: 31.5.2010 WNK4. WNKs include a family of serine- threonine protein kinases with unusual placement of