Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 (SGK1) as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families

2007 ◽  
Vol 27 (2) ◽  
pp. 164-169 ◽  
Author(s):  
Felix G. Riepe ◽  
Paul-Martin Holterhus
Keyword(s):  
Candidate Gene ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene

2004 ◽  
Vol 24 (5) ◽  
pp. 483-487 ◽  
Author(s):  
Catherine L. Huey ◽  
Felix G. Riepe ◽  
Wolfgang G. Sippell ◽  
Alan S.L. Yu
Keyword(s):  
Candidate Gene ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

10.1038/966 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 279-281 ◽  
Author(s):  
David S. Geller ◽  
Juan Rodriguez-Soriano ◽  
Alfredo V. Boado ◽  
Søren Schifter ◽  
Milan Bayer ◽  
...  
Keyword(s):  
Mineralocorticoid Receptor ◽  
Autosomal Dominant ◽  
Receptor Gene ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Pseudohypoaldosteronism Type I, Autosomal Recessive and Dominant Forms

2009 ◽  
pp. 1743-1744
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Type I ◽  
Pseudohypoaldosteronism Type

Prostaglandin excretion in pseudohypoaldosteronism type I

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S381-S385 ◽  
Author(s):  
E.A. WERDER ◽  
W. HILBE ◽  
M.B. VALLOTTON
Keyword(s):  
Urinary Excretion ◽  
Type I ◽  
Dietary Salt ◽  
Basic Defect ◽  
Renal Prostaglandins ◽  
Normal Mean ◽  
Pseudohypoaldosteronism Type

Abstract In an infant with pseudohypoaldosteronism type I increased urinary excretion of PGE2 (1.32 ng/mg creatinine; normal mean ± SE: 0.50 ± 0.10) and PGF2α (6.15 ng/mg creatinine; normal mean ± SE: 2.93 ± 0.91) was found. Prostaglandin excretion as well as the typical hyperkalemia, hyperreninemia and hyperaldosteronism normalized with adequate dietary salt supplementation. An abnormally high excretion of the renal prostaglandins was again present at age 4.4 years when the child was thriving although additional salt was withheld. These abnormalities are considered to be secondary to this condition's basic defect which remains to be elucidated.

scholarly journals Systemic Pseudohypoaldosteronism Type I: A Case Report and Review of the Literature

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Nasifa Nur ◽  
Cameron Lang ◽  
Juanita K. Hodax ◽  
Jose Bernardo Quintos
Keyword(s):  
Differential Diagnosis ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Type I ◽  
Review Of The Literature ◽  
Severe Dehydration ◽  
Salt Wasting ◽  
Sodium Supplementation ◽  
Pseudohypoaldosteronism Type

Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article we report a patient with systemic PHA type I presenting with severe dehydration due to salt wasting at 6 days of life. She was found to have a known mutation in the SCNN1A gene and subsequently required treatment with sodium supplementation. We also review the clinical presentation, differential diagnosis, and treatment of systemic PHA type I and summarize data from 27 cases with follow-up data.

scholarly journals Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point

2014 ◽  
Vol 2 (6) ◽  
pp. 326-330 ◽  
Author(s):  
Gunjeet Kala Ahluwalia ◽  
Majed Dasouki ◽  
Angela Lennon
Keyword(s):  
Phenotypic Variation ◽  
Autosomal Recessive ◽  
Type I ◽  
Pseudohypoaldosteronism Type

scholarly journals A late diagnosis of Pseudohypoaldosteronism type I in an infant with hypoplastic left heart syndrome presenting with failure to thrive

2021 ◽  
pp. 1-3
Author(s):  
Deani H. McVadon ◽  
John M. Costello ◽  
Katherine E. Twombley ◽  
Sinai C. Zyblewski
Keyword(s):  
Hypoplastic Left Heart Syndrome ◽  
Case Reports ◽  
Peripheral Resistance ◽  
Failure To Thrive ◽  
Type I ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Poor Growth ◽  
Left Heart Syndrome ◽  
Pseudohypoaldosteronism Type

Abstract Pseudohypoaldosteronism type I is caused by a peripheral resistance to aldosterone and can present with electrolyte abnormalities, poor growth, or dehydration. Although a rare disease, several case reports have been published regarding Pseudohypoaldosteronism type I in neonates and infants. We report a case of failure to thrive and hyponatremia in an infant with hypoplastic left heart syndrome who was subsequently found to have Pseudohypoaldosteronism type I.

scholarly journals Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its α subunit

1999 ◽  
Vol 104 (7) ◽  
pp. 967-974 ◽  
Author(s):  
Olivier Bonny ◽  
Ahmed Chraibi ◽  
Jan Loffing ◽  
Nicole Fowler Jaeger ◽  
Stefan Gründer ◽  
...  
Keyword(s):  
Functional Expression ◽  
Na Channel ◽  
Type I ◽  
Α Subunit ◽  
Epithelial Na Channel ◽  
Pseudohypoaldosteronism Type
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