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Pseudohypoaldosteronism information


Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism.[1] Two major types of primary pseudohypoaldosteronism are recognized.[2]

  1. ^ "Pseudohypoaldosteronism: Overview - eMedicine Pediatrics: General Medicine". Retrieved 2009-03-06.
  2. ^ Diaz-Thomas, Alicia; Pascual-Y-Baralt, Jose F. (5 August 2022). Hoffman, Robert P. (ed.). "Pseudohypoaldosteronism". MedScape. WebMD LLC. Retrieved 6 June 2024.

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Pseudohypoaldosteronism

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Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. Two major types of primary pseudohypoaldosteronism are recognized. Pseudohypoaldosteronism...

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Eccrine sweat gland

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Na+ during the process of perspiration. People with the systemic pseudohypoaldosteronism syndrome who carry mutations in the ENaC subunit genes have salty...

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Renal tubular acidosis

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and ARBs, Eplerenone, Spironolactone, Trimethoprim, Pentamidine Pseudohypoaldosteronism Renal tubular acidosis was first described in 1935 by Lightwood...

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WNK4

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encoded by the WNK4 gene. Missense mutations cause a genetic form of pseudohypoaldosteronism type 2, also called Gordon syndrome. WNK4 is a member of a serine/threonine...

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Hyperchloremic acidosis

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(i.e., total parenteral nutrition) Anion gap Metabolic acidosis Pseudohypoaldosteronism "Hyperchloremic Acidosis: Practice Essentials, Etiology, Patient...

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SCNN1B

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associated with mutations in the SCNN1B gene. These are: 1. Multisystem pseudohypoaldosteronism, 2. Liddle syndrome, and 3. Cystic fibrosis-like disease. The disease...

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Israel Hanukoglu

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Wolfson Medical Center), identified that a hereditary disease named pseudohypoaldosteronism (PHA) type I encompasses two independent syndromes. Following this...

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Cilium

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Mutations that decrease the activity of ENaCs result in multisystem pseudohypoaldosteronism, that is associated with fertility problems. In cystic fibrosis...

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Hypoaldosteronism

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hyperkalemia. Addison's disease Adrenal gland Hyperaldosteronism Pseudohypoaldosteronism Becker, Kenneth L. (2001). Principles and practice of endocrinology...

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SCNN1G

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associated with mutations in the SCNN1G gene. These are: 1. Multisystem pseudohypoaldosteronism, 2. Liddle syndrome, and 3. Cystic fibrosis-like disease. The disease...

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PHA

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hazardous asteroid Process hazard analysis of an industrial process Pseudohypoaldosteronism, a condition that mimics hypoaldosteronism but with high levels...

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SCNN1A

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associated with mutations in SCNN1A is the multi-system form of type I pseudohypoaldosteronism (PHA1B) that was first characterized by A. Hanukoglu as an autosomal...

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Campomelic dysplasia

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insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita...

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Hyperkalemia

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(aldosterone resistance of the kidney's tubules) Gordon's syndrome (pseudohypoaldosteronism type II) ("familial hypertension with hyperkalemia"), a rare genetic...

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Generalized glucocorticoid resistance

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Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH Pseudohypoaldosteronism Cortisol Cushing's syndrome Pseudo-Cushing's syndrome Steroid-induced...

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Epithelial sodium channel

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in sweat. In patients with ENaC mutations that cause systemic pseudohypoaldosteronism type I, the patients can lose a significant amount of Na⁺ ions...

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ROMK

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novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism" (PDF). Pediatric Nephrology. 22 (8): 1219–23. doi:10.1007/s00467-007-0468-4...

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Isolated hyperchlorhidrosis

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can cause loss of salt in the sweat – such as cystic fibrosis or pseudohypoaldosteronism, type IB1, have to be excluded, since this condition, like the...

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Tubulopathy

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hypertension, stroke Plasma: ↓renin, ↓K, ↓Mg, ↑CO2; Urine: ↑K Pseudohypoaldosteronism type 1a [264350] ENaC (inactivating) 12p13, 16p13-p12 AR Presents...

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Female infertility

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the endometrium - Implications for fertility in a patient with pseudohypoaldosteronism". The Journal of Steroid Biochemistry and Molecular Biology. 183:...

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Mineralocorticoid receptor

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in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I". Nature Genetics. 19 (3): 279–81. doi:10.1038/966. PMID 9662404...

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WNK1

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mutations associated with Gordon hyperkalemia-hypertension syndrome (pseudohypoaldosteronism Type II, featuring hypertension also called familial hyperkalemic...

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List of OMIM disorder codes

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PIEZO1 Pseudohypoaldosteronism type I, autosomal dominant; 177735; NR3C2 Pseudohypoaldosteronism type II; 145260; WNK4 Pseudohypoaldosteronism, type I;...

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