Literature DB >> 27896392

Tubular and genetic disorders associated with kidney stones.

Nilufar Mohebbi1, Pietro Manuel Ferraro2, Giovanni Gambaro2, Robert Unwin3.   

Abstract

This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding.

Entities:  

Keywords:  Mutation; Nephrocalcinosis; Nephrolithiasis; Urolithiasis

Mesh:

Year:  2016        PMID: 27896392     DOI: 10.1007/s00240-016-0945-y

Source DB:  PubMed          Journal:  Urolithiasis        ISSN: 2194-7228            Impact factor:   3.436


  71 in total

1.  The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type III.

Authors:  Bernd Hoppe
Journal:  Nephrol Dial Transplant       Date:  2012-08       Impact factor: 5.992

2.  High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease.

Authors:  Valeriu Cebotaru; Sadhana Kaul; Olivier Devuyst; Hui Cai; Lorraine Racusen; William B Guggino; Sandra E Guggino
Journal:  Kidney Int       Date:  2005-08       Impact factor: 10.612

3.  Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.

Authors:  N Mohebbi; R Vargas-Poussou; S C A Hegemann; B Schuknecht; A D Kistler; R P Wüthrich; C A Wagner
Journal:  Clin Genet       Date:  2012-05-11       Impact factor: 4.438

4.  Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

Authors:  Jan Halbritter; Michelle Baum; Ann Marie Hynes; Sarah J Rice; David T Thwaites; Zoran S Gucev; Brittany Fisher; Leslie Spaneas; Jonathan D Porath; Daniela A Braun; Ari J Wassner; Caleb P Nelson; Velibor Tasic; John A Sayer; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2014-10-08       Impact factor: 10.121

5.  A common molecular basis for three inherited kidney stone diseases.

Authors:  S E Lloyd; S H Pearce; S E Fisher; K Steinmeyer; B Schwappach; S J Scheinman; B Harding; A Bolino; M Devoto; P Goodyer; S P Rigden; O Wrong; T J Jentsch; I W Craig; R V Thakker
Journal:  Nature       Date:  1996-02-01       Impact factor: 49.962

6.  Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2.

Authors:  GholamHossein Naderi; AmirHossein Latif; Firouzeh Tabassomi; Seyed Taher Esfahani
Journal:  Pediatr Transplant       Date:  2014-03-05

7.  The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.

Authors:  Nasser A Dhayat; Andre Schaller; Giuseppe Albano; John Poindexter; Carolyn Griffith; Andreas Pasch; Sabina Gallati; Bruno Vogt; Orson W Moe; Daniel G Fuster
Journal:  J Am Soc Nephrol       Date:  2015-10-09       Impact factor: 10.121

8.  Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Authors:  Debayan Dasgupta; Mark J Wee; Monica Reyes; Yuwen Li; Peter J Simm; Amita Sharma; Karl-Peter Schlingmann; Marco Janner; Andrew Biggin; Joanna Lazier; Michaela Gessner; Dionisios Chrysis; Shamir Tuchman; H Jorge Baluarte; Michael A Levine; Dov Tiosano; Karl Insogna; David A Hanley; Thomas O Carpenter; Shoji Ichikawa; Bernd Hoppe; Martin Konrad; Lars Sävendahl; Craig F Munns; Hang Lee; Harald Jüppner; Clemens Bergwitz
Journal:  J Am Soc Nephrol       Date:  2014-04-03       Impact factor: 10.121

9.  Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies.

Authors:  Sookkasem Khositseth; Apiwan Sirikanaerat; Siri Khoprasert; Sauwalak Opastirakul; Pornchai Kingwatanakul; Wanna Thongnoppakhun; Pa-thai Yenchitsomanus
Journal:  Am J Hematol       Date:  2008-06       Impact factor: 10.047

10.  Mutations in SLC26A1 Cause Nephrolithiasis.

Authors:  Heon Yung Gee; Ikhyun Jun; Daniela A Braun; Jennifer A Lawson; Jan Halbritter; Shirlee Shril; Caleb P Nelson; Weizhen Tan; Deborah Stein; Ari J Wassner; Michael A Ferguson; Zoran Gucev; John A Sayer; Danko Milosevic; Michelle Baum; Velibor Tasic; Min Goo Lee; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2016-05-19       Impact factor: 11.025

View more
  6 in total

Review 1.  Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.

Authors:  Nicolas Faller; Nasser A Dhayat; Daniel G Fuster
Journal:  Urolithiasis       Date:  2018-11-20       Impact factor: 3.436

2.  A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis.

Authors:  Saisai Yang; Guanghui Yao; Xin Chen; Huirong Shi; Chihhong Lou; Shumin Ren; Zhihui Jiao; Cong Wang; Xiangdong Kong; Qinghua Wu
Journal:  BMC Nephrol       Date:  2022-06-27       Impact factor: 2.585

Review 3.  Personalized Intervention in Monogenic Stone Formers.

Authors:  Lucas J Policastro; Subodh J Saggi; David S Goldfarb; Jeffrey P Weiss
Journal:  J Urol       Date:  2017-10-20       Impact factor: 7.450

4.  Absence of the sulfate transporter SAT-1 has no impact on oxalate handling by mouse intestine and does not cause hyperoxaluria or hyperoxalemia.

Authors:  Jonathan M Whittamore; Christine E Stephens; Marguerite Hatch
Journal:  Am J Physiol Gastrointest Liver Physiol       Date:  2018-11-01       Impact factor: 4.052

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

6.  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

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.