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Tytuł pozycji:

Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.

Tytuł :
Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice.
Autorzy :
Salerno EE; Departments of Physiology and Biophysics and.
Patel SP; Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York.; State University of New York Eye Institute, Buffalo, New York; and.; Research and Ophthalmology Services, VA Western New York Healthcare System, Buffalo, New York.
Marshall A; Departments of Physiology and Biophysics and.
Marshall J; Departments of Physiology and Biophysics and.
Alsufayan T; Departments of Physiology and Biophysics and.
Mballo CSA; Departments of Physiology and Biophysics and.
Quade BN; Departments of Physiology and Biophysics and.
Parker MD; Departments of Physiology and Biophysics and .; Ophthalmology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York.; State University of New York Eye Institute, Buffalo, New York; and.
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Źródło :
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2019 Jun; Vol. 30 (6), pp. 979-989. Date of Electronic Publication: 2019 Apr 30.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Język :
English
Journal Info :
Publisher: American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J. Am. Soc. Nephrol. Subsets: MEDLINE
Imprint Name(s) :
Publication: 2005- : Washington, DC : American Society of Nephrology
Original Publication: Baltimore, MD : Williams & Wilkins, c1990-
MeSH Terms :
Gene Expression Regulation*
Mutation, Missense*
Acidosis, Renal Tubular/*genetics
Acidosis, Renal Tubular/*mortality
Sodium-Bicarbonate Symporters/*genetics
Acidosis/metabolism ; Acidosis, Renal Tubular/physiopathology ; Acidosis, Respiratory/genetics ; Acidosis, Respiratory/mortality ; Analysis of Variance ; Animals ; Bicarbonates/metabolism ; Blood Gas Analysis ; Disease Models, Animal ; Mice ; Mice, Knockout ; Phenotype
References :
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Grant Information :
P30 CA016056 United States CA NCI NIH HHS; R01 EY028580 United States EY NEI NIH HHS
Contributed Indexing :
Keywords: Intracellular pH*; NBCe1*; bicarbonate*; chronic metabolic acidosis*; genetic renal disease*; renal proximal tubule cell*
Substance Nomenclature :
0 (Bicarbonates)
0 (Sodium-Bicarbonate Symporters)
Entry Date(s) :
Date Created: 20190502 Date Completed: 20200225 Latest Revision: 20200601
Update Code :
20200716
PubMed Central ID :
PMC6551787
DOI :
10.1681/ASN.2018050545
PMID :
31040187
Czasopismo naukowe
Background: The SLC4A4 gene encodes electrogenic sodium bicarbonate cotransporter 1 (NBCe1). Inheritance of recessive mutations in SLC4A4 causes proximal renal tubular acidosis (pRTA), a disease characterized by metabolic acidosis, growth retardation, ocular abnormalities, and often dental abnormalities. Mouse models of pRTA exhibit acidemia, corneal edema, weak dental enamel, impacted colons, nutritional defects, and a general failure to thrive, rarely surviving beyond weaning. Alkali therapy remains the preferred treatment for pRTA, but it is unclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 loss from nonrenal sites (such as the eye and enamel organ) and therefore require separate therapy. SLC4A4 encodes three major NBCe1 variants: NBCe1-A, NBCe1-B, and NBCe1-C. NBCe1-A is expressed in proximal tubule epithelia; its dysfunction causes the plasma bicarbonate insufficiency that underlies acidemia. NBCe1-B and NBCe1-C exhibit a broad extra-proximal-tubular distribution.
Methods: To explore the consequences of Nbce1b/c loss in the absence of acidemia, we engineered a novel strain of Nbce1b/c-null mice and assessed them for signs of pRTA.
Results: Nbce1b/c-null mice have normal blood pH, but exhibit increased mortality, growth retardation, corneal edema, and tooth enamel defects.
Conclusions: The correction of pRTA-related acidemia should not be considered a panacea for all signs of pRTA. The phenotype of Nbce1b/c-null mice highlights the physiologic importance of NBCe1 variants expressed beyond the proximal tubular epithelia and potential limitations of pH correction by alkali therapy in pRTA. It also suggests a novel genetic locus for corneal dystrophy and enamel hypomineralization without acidemia.
(Copyright © 2019 by the American Society of Nephrology.)

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