Literature DB >> 27605580

Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.

Ben Oliveira1, Robert Kleta2, Detlef Bockenhauer1, Stephen B Walsh1.   

Abstract

Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes but also an even greater number of genetic diseases, predominantly renal but also extrarenal. Here we provide a review of the genetic causes of nephrocalcinosis, along with putative mechanisms, illustrated by human and animal data.
Copyright © 2016 the American Physiological Society.

Entities:  

Keywords:  genetics; nephrocalcinosis; tubular physiology

Mesh：

Substances：

Year:  2016        PMID： 27605580     DOI： 10.1152/ajprenal.00211.2016

Source DB:  PubMed          Journal:  Am J Physiol Renal Physiol        ISSN： 1522-1466


  13 in total

Review 1.  Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.

Authors:  Carsten A Wagner; Isabel Rubio-Aliaga; Nati Hernando
Journal:  Pediatr Nephrol       Date:  2017-12-23       Impact factor: 3.714

2.  Development of a Kidney Calcification Inhibitor Employing Image-Based Profiling: A Proof-of-Concept Study.

Authors:  Anna Kletzmayr; Melina Bigler; Elita Montanari; Makoto Kuro-O; Hirosaka Hayashi; Mattias E Ivarsson; Jean-Christophe Leroux
Journal:  ACS Pharmacol Transl Sci       Date:  2020-11-23

Review 3.  The genetics of kidney stone disease and nephrocalcinosis.

Authors:  Prince Singh; Peter C Harris; David J Sas; John C Lieske
Journal:  Nat Rev Nephrol       Date:  2021-12-14       Impact factor: 28.314

4.  Meeting report of the "Symposium on kidney stones and mineral metabolism: calcium kidney stones in 2017".

Authors:  Agnieszka Pozdzik; Naim Maalouf; Emmanuel Letavernier; Isabelle Brocheriou; Jean-Jacques Body; Benjamin Vervaet; Carl Van Haute; Johanna Noels; Romy Gadisseur; Vincent Castiglione; Frédéric Cotton; Giovanni Gambaro; Michel Daudon; Khashayar Sakhaee
Journal:  J Nephrol       Date:  2019-01-24       Impact factor: 3.902

5.  Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Authors:  Caroline M Gorvin; Nellie Y Loh; Michael J Stechman; Sara Falcone; Fadil M Hannan; Bushra N Ahmad; Sian E Piret; Anita Ac Reed; Jeshmi Jeyabalan; Paul Leo; Mhairi Marshall; Siddharth Sethi; Paul Bass; Ian Roberts; Jeremy Sanderson; Sara Wells; Tertius A Hough; Liz Bentley; Paul T Christie; Michelle M Simon; Ann-Marie Mallon; Herbert Schulz; Roger D Cox; Matthew A Brown; Norbert Huebner; Steve D Brown; Rajesh V Thakker
Journal:  J Bone Miner Res       Date:  2019-03-04       Impact factor: 6.741

Review 6.  Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.

Authors:  Fay J Dickson; John A Sayer
Journal:  Int J Mol Sci       Date:  2020-01-06       Impact factor: 5.923

7.  Massive thrombosis in an infant with suspected nephrocalcinosis: case report and literature review.

Authors:  Magdalena Kowalewska-MŁot; Piotr Skrzypczyk; GraŻyna KrzemieŃ; MichaŁ Brzewski; Anna Klukowska; MaŁgorzata PaŃczyk-Tomaszewska
Journal:  Cent Eur J Immunol       Date:  2020-11-01       Impact factor: 2.085

8.  Symptomatic renal papillary varicosities and medullary nephrocalcinosis.

Authors:  Brent Cleveland; Michael Borofsky
Journal:  BMC Urol       Date:  2021-11-29       Impact factor: 2.264

9.  Case reports of hypercalcemia and chronic renal disease due to cosmetic injections of polymethylmethacrylate (PMMA).

Authors:  Arthur G Manfro; Mauricio Lutzky; Jose M Dora; Milton A S Kalil; Roberto C Manfro
Journal:  J Bras Nefrol       Date:  2021 Apr-Jun

10.  An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Authors:  Caroline M Gorvin; Bushra N Ahmad; Michael J Stechman; Nellie Y Loh; Tertius A Hough; Paul Leo; Mhairi Marshall; Siddharth Sethi; Liz Bentley; Sian E Piret; Anita Reed; Jeshmi Jeyabalan; Paul T Christie; Sara Wells; Michelle M Simon; Ann-Marie Mallon; Herbert Schulz; Norbert Huebner; Matthew A Brown; Roger D Cox; Steve D Brown; Rajesh V Thakker
Journal:  J Bone Miner Res       Date:  2018-12-14       Impact factor: 6.741
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