Literature DB >> 15558518

Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms.

Giovanni Gambaro1, Giuseppe Vezzoli, Giorgio Casari, Luca Rampoldi, Angela D'Angelo, Loris Borghi.   

Abstract

Idiopathic calcium nephrolithiasis is a multifactorial disease with a pathogenesis that involves a complex interaction of environmental and individual factors. This review discusses what is known about monogenic renal calcium stone-related disorders, provides an update on genetic research in calcium nephrolithiasis and such intermediate phenotypes as idiopathic hypercalciuria, discusses the problems that these conditions pose to clinicians and geneticists interested in their pathogenesis, and proposes some method tools potentially useful in this research frame of reference.

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Year:  2004        PMID： 15558518     DOI： 10.1053/j.ajkd.2004.06.030

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


  28 in total

1.  Idiopathic hypercalciuria in infants with renal stones.

Authors:  Anita Ammenti; Erica Neri; Roberta Agistri; Umberto Beseghi; Ermanno Bacchini
Journal:  Pediatr Nephrol       Date:  2006-09-01       Impact factor: 3.714

Review 2.  Kidney stone disease.

Authors:  Fredric L Coe; Andrew Evan; Elaine Worcester
Journal:  J Clin Invest       Date:  2005-10       Impact factor: 14.808

3.  An unusual DMSA scan: answer.

Authors:  Alison Timmis; Caroline Jones; Fauzia Paize
Journal:  Pediatr Nephrol       Date:  2011-06-08       Impact factor: 3.714

4.  Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.

Authors:  M Bargagli; G Primiano; A Primiano; J Gervasoni; A Naticchia; S Servidei; G Gambaro; P M Ferraro
Journal:  Urolithiasis       Date:  2018-11-07       Impact factor: 3.436

5.  Protective impact of resveratrol in experimental rat model of hyperoxaluria.

Authors:  Taylan Oksay; Sedat Yunusoğlu; Mustafa Calapoğlu; I Aydın Candan; İbrahim Onaran; Osman Ergün; Alper Özorak
Journal:  Int Urol Nephrol       Date:  2017-02-09       Impact factor: 2.370

6.  Calcium urolithiasis course in young stone formers is influenced by the strength of family history: results from a retrospective study.

Authors:  Angela Guerra; Andrea Ticinesi; Franca Allegri; Antonio Nouvenne; Silvana Pinelli; Fulvio Lauretani; Marcello Maggio; Gianfranco Cervellin; Loris Borghi; Tiziana Meschi
Journal:  Urolithiasis       Date:  2016-12-09       Impact factor: 3.436

7.  Glomerular Pathology in Dent Disease and Its Association with Kidney Function.

Authors:  Xiangling Wang; Franca Anglani; Lada Beara-Lasic; Anila J Mehta; Lisa E Vaughan; Loren Herrera Hernandez; Andrea Cogal; Steven J Scheinman; Gema Ariceta; Robert Isom; Lawrence Copelovitch; Felicity T Enders; Dorella Del Prete; Giuseppe Vezzoli; Fabio Paglialonga; Peter C Harris; John C Lieske
Journal:  Clin J Am Soc Nephrol       Date:  2016-10-03       Impact factor: 8.237

8.  The relation between bone and stone formation.

Authors:  Nancy S Krieger; David A Bushinsky
Journal:  Calcif Tissue Int       Date:  2012-12-18       Impact factor: 4.333

9.  Heritability of urinary traits that contribute to nephrolithiasis.

Authors:  John C Lieske; Stephen T Turner; Samuel N Edeh; Jennifer A Smith; Sharon L R Kardia
Journal:  Clin J Am Soc Nephrol       Date:  2014-02-27       Impact factor: 8.237

Review 10.  Kidney stones.

Authors:  Saeed R Khan; Margaret S Pearle; William G Robertson; Giovanni Gambaro; Benjamin K Canales; Steeve Doizi; Olivier Traxer; Hans-Göran Tiselius
Journal:  Nat Rev Dis Primers       Date:  2016-02-25       Impact factor: 52.329
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