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ALLMedicine™ Autosomal Recessive Pseudohypoaldosteronism Type 1 Center

Research & Reviews  4 results

Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteroni...
https://doi.org/10.1152/ajprenal.00258.2015
American Journal of Physiology. Renal Physiology; Poulsen SB, Praetorius J et. al.

Nov 19th, 2015 - Genetic inactivation of the epithelial Na(+) channel α-subunit (αENaC) in the renal collecting duct (CD) does not interfere with Na(+) and K(+) homeostasis in mice. However, inactivation in the CD and a part of the connecting tubule (CNT) induces ...

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldostero...
https://doi.org/10.1530/EJE-12-1000
European Journal of Endocrinology; Welzel M, Akin L et. al.

Feb 18th, 2013 - Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). While auto...

Autosomal recessive pseudohypoaldosteronism type 1
https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1

Dec 1st, 2011 - Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ system...

Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1.
https://doi.org/10.1097/MOP.0b013e328325a55f
Current Opinion in Pediatrics; Schweiger B, Moriarty MW et. al.

Aug 6th, 2009 - Hyponatremia and hyperkalemia in infancy can represent a variety of renal and genetic disorders with significant long-term health implications. We report a newborn with severe hyperkalemia and hyponatremia from autosomal recessive pseudohypoaldost...

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Clinicaltrials.gov  4 results

Reducing αENaC expression in the kidney connecting tubule induces pseudohypoaldosteroni...
https://doi.org/10.1152/ajprenal.00258.2015
American Journal of Physiology. Renal Physiology; Poulsen SB, Praetorius J et. al.

Nov 19th, 2015 - Genetic inactivation of the epithelial Na(+) channel α-subunit (αENaC) in the renal collecting duct (CD) does not interfere with Na(+) and K(+) homeostasis in mice. However, inactivation in the CD and a part of the connecting tubule (CNT) induces ...

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldostero...
https://doi.org/10.1530/EJE-12-1000
European Journal of Endocrinology; Welzel M, Akin L et. al.

Feb 18th, 2013 - Pseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na(+) channel (ENaC). While auto...

Autosomal recessive pseudohypoaldosteronism type 1
https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1

Dec 1st, 2011 - Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ system...

Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1.
https://doi.org/10.1097/MOP.0b013e328325a55f
Current Opinion in Pediatrics; Schweiger B, Moriarty MW et. al.

Aug 6th, 2009 - Hyponatremia and hyperkalemia in infancy can represent a variety of renal and genetic disorders with significant long-term health implications. We report a newborn with severe hyperkalemia and hyponatremia from autosomal recessive pseudohypoaldost...

see more →