Literature DB >> 24566812

The long-term complications of the inherited tubulopathies: an adult perspective.

Maryam Khosravi1, Stephen B Walsh.   

Abstract

The inherited tubulopathies are lifelong disorders and their clinical features and complications may present quite different challenges in adulthood from those in childhood. In this review we outline the pathophysiology and documented complications (including the late and unusual) of the monogenic tubulopathies from the perspective of the adult nephrologist.

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Year:  2014        PMID： 24566812     DOI： 10.1007/s00467-014-2779-6

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  118 in total

1.  Chondrocalcinosis and Gitelman's syndrome. A new association?

Authors:  J C Cobeta-Garcia; A Gascón; E Iglesias; V Estopiñán
Journal:  Ann Rheum Dis       Date:  1998-12       Impact factor: 19.103

2.  Effect of dipyridamole on serum and urinary phosphate in X-linked hypophosphatemia.

Authors:  M G Seikaly; R Quigley; M Baum
Journal:  Pediatr Nephrol       Date:  2000-11       Impact factor: 3.714

3.  Nephrogenic syndrome of inappropriate antidiuresis in adults: high phenotypic variability in men and women from a large pedigree.

Authors:  Guy Decaux; Frédéric Vandergheynst; Yasmina Bouko; Jasmine Parma; Gilbert Vassart; Catheline Vilain
Journal:  J Am Soc Nephrol       Date:  2007-01-17       Impact factor: 10.121

4.  A first report: living related kidney transplantation on a patient with Bartter's syndrome.

Authors:  M Takahashi; N Yanagida; M Okano; A Ishizaki; J Meguro; K Kukita; T Tamaki; M Yonekawa; A Kawamura; T Yokoyama
Journal:  Transplant Proc       Date:  1996-06       Impact factor: 1.066

5.  A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.

Authors:  Detlef Bockenhauer; Michael D Penney; David Hampton; William van't Hoff; Ambrose Gullett; Sankar Sailesh; Daniel G Bichet
Journal:  Am J Kidney Dis       Date:  2011-12-09       Impact factor: 8.860

6.  Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.

Authors:  David S Geller; Junhui Zhang; Maria-Christina Zennaro; Alberto Vallo-Boado; Juan Rodriguez-Soriano; Laszlo Furu; Robert Haws; Daniel Metzger; Barbara Botelho; Lefkothea Karaviti; Andrea M Haqq; Howard Corey; Sandra Janssens; Pierre Corvol; Richard P Lifton
Journal:  J Am Soc Nephrol       Date:  2006-04-12       Impact factor: 10.121

7.  Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria.

Authors:  J Rodríguez-Soriano; A Vallo
Journal:  Pediatr Nephrol       Date:  1994-08       Impact factor: 3.714

8.  Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Authors:  Jianghui Hou; Aparna Renigunta; Martin Konrad; Antonio S Gomes; Eveline E Schneeberger; David L Paul; Siegfried Waldegger; Daniel A Goodenough
Journal:  J Clin Invest       Date:  2008-02       Impact factor: 14.808

9.  Renin increases mesangial cell transforming growth factor-beta1 and matrix proteins through receptor-mediated, angiotensin II-independent mechanisms.

Authors:  Y Huang; S Wongamorntham; J Kasting; D McQuillan; R T Owens; L Yu; N A Noble; W Border
Journal:  Kidney Int       Date:  2006-01       Impact factor: 18.998

10.  Thiazide diuretics directly induce osteoblast differentiation and mineralized nodule formation by interacting with a sodium chloride co-transporter in bone.

Authors:  Melita M Dvorak; Cyrille De Joussineau; D Howard Carter; Trairak Pisitkun; Mark A Knepper; Gerardo Gamba; Paul J Kemp; Daniela Riccardi
Journal:  J Am Soc Nephrol       Date:  2007-07-26       Impact factor: 10.121
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  1 in total

1.  Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Authors:  Viviana Palazzo; Valentina Raglianti; Samuela Landini; Luigi Cirillo; Carmela Errichiello; Elisa Buti; Rosangela Artuso; Lucia Tiberi; Debora Vergani; Elia Dirupo; Paola Romagnani; Benedetta Mazzinghi; Francesca Becherucci
Journal:  Int J Mol Sci       Date:  2022-05-18       Impact factor: 6.208
  1 in total

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