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Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition

The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathologic...

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Autores principales: Dickson, Fay J., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981752/
https://www.ncbi.nlm.nih.gov/pubmed/31935940
http://dx.doi.org/10.3390/ijms21010369
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author Dickson, Fay J.
Sayer, John A.
author_facet Dickson, Fay J.
Sayer, John A.
author_sort Dickson, Fay J.
collection PubMed
description The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis and nephrolithiasis are rare, they account for a significant disease burden with many patients developing chronic or end-stage renal disease. Identifying underlying genetic mutations in hereditary cases of nephrocalcinosis has provided valuable insights into renal tubulopathies that include hypercalciuria within their varied phenotypes. Genotypes affecting other enzyme pathways, including vitamin D metabolism and hepatic glyoxylate metabolism, are also associated with nephrocalcinosis. As the availability of genetic testing becomes widespread, we cannot be imprecise in our approach to nephrocalcinosis. Monogenic causes of nephrocalcinosis account for a broad range of phenotypes. In cases such as Dent disease, supportive therapies are limited, and early renal replacement therapies are necessitated. In cases such as renal tubular acidosis, a good renal prognosis can be expected providing effective treatment is implemented. It is imperative we adopt a precision-medicine approach to ensure patients and their families receive prompt diagnosis, effective, tailored treatment and accurate prognostic information.
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spelling pubmed-69817522020-02-07 Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition Dickson, Fay J. Sayer, John A. Int J Mol Sci Review The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis and nephrolithiasis are rare, they account for a significant disease burden with many patients developing chronic or end-stage renal disease. Identifying underlying genetic mutations in hereditary cases of nephrocalcinosis has provided valuable insights into renal tubulopathies that include hypercalciuria within their varied phenotypes. Genotypes affecting other enzyme pathways, including vitamin D metabolism and hepatic glyoxylate metabolism, are also associated with nephrocalcinosis. As the availability of genetic testing becomes widespread, we cannot be imprecise in our approach to nephrocalcinosis. Monogenic causes of nephrocalcinosis account for a broad range of phenotypes. In cases such as Dent disease, supportive therapies are limited, and early renal replacement therapies are necessitated. In cases such as renal tubular acidosis, a good renal prognosis can be expected providing effective treatment is implemented. It is imperative we adopt a precision-medicine approach to ensure patients and their families receive prompt diagnosis, effective, tailored treatment and accurate prognostic information. MDPI 2020-01-06 /pmc/articles/PMC6981752/ /pubmed/31935940 http://dx.doi.org/10.3390/ijms21010369 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Dickson, Fay J.
Sayer, John A.
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title_full Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title_fullStr Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title_full_unstemmed Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title_short Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
title_sort nephrocalcinosis: a review of monogenic causes and insights they provide into this heterogeneous condition
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981752/
https://www.ncbi.nlm.nih.gov/pubmed/31935940
http://dx.doi.org/10.3390/ijms21010369
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