نتایج جستجو برای: pseudohypoaldosteronism type 1

تعداد نتایج: 3647227  

Journal: :Physical review. E, Statistical, nonlinear, and soft matter physics 2014
R Alvarez-Nodarse N R Quintero F G Mertens

A method of averaging is applied to study the dynamics of a kink in the damped double sine-Gordon equation driven by both external (nonparametric) and parametric periodic forces at high frequencies. This theoretical approach leads to the study of a double sine-Gordon equation with an effective potential and an effective additive force. Direct numerical simulations show how the appearance of two...

Journal: :Medical economics 2006
Wayne J Guglielmo

Then she read an eye-opening article by FP Gordon Moore, who practiced in Rochester, NY, and had had his own disillusioning experience with a traditional high-volume, crankthem-through group practice. Moore's article described his odyssey from that frustrating situation to something that both he—and the patients who followed him—found a welcome change. It's a low-volume, highly efficient solo p...

Journal: :American journal of physiology. Renal physiology 2013
Ganesh Pathare Joost G J Hoenderop René J M Bindels Pedro San-Cristobal

The DCT (distal convoluted tubule) is the site of microregulation of water reabsorption and ion handling in the kidneys, which is mainly under the control of aldosterone. Aldosterone binds to and activates mineralocorticoid receptors, which ultimately lead to increased sodium reabsorption in the distal part of the nephron. Impairment of mineralocorticoid signal transduction results in resistanc...

2018
Atsushi Sato Hiroshi Shibuya

The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A. In kidney, WNK regulates the activity of STE20/SPS1-related, proline alanine-rich kinase and/or oxidative-stress responsive 1, which in turn regulate ...

Journal: :Journal of the American Society of Nephrology : JASN 2010
Seth B Furgeson Stuart Linas

Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid recep...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Bing-e Xu Steve Stippec Po-Yin Chu Ahmed Lazrak Xin-Ji Li Byung-Hoon Lee Jessie M English Bernardo Ortega Chou-Long Huang Melanie H Cobb

WNK (with no lysine [K]) kinases are serine-threonine protein kinases with an atypical placement of the catalytic lysine. Intronic deletions increase the expression of WNK1 in humans and cause pseudohypoaldosteronism type II, a form of hypertension. WNKs have been linked to ion carriers, but the underlying regulatory mechanisms are unknown. Here, we report a mechanism for the control of ion per...

2016
Najya A. Attia Yousef I. Marzouk

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a...

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