Literature DB >> 7032774

A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.

A Patrick, J S Cameron, C S Ogg.   

Abstract

Three members of a family previously reported by Sheldon, Luder and Web in 1961 as having a benign tubular renal disease have since developed renal failure. One received a renal transplant but died following this. This form of apparently primary, dominantly-inherited Fanconi syndrome is a mild disease in childhood, but leads to renal failure in adult life.

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Mesh：

Year:  1981        PMID： 7032774

Source DB:  PubMed          Journal:  Clin Nephrol        ISSN： 0301-0430            Impact factor:   0.975


  8 in total

1.  Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Authors:  Markus Reichold; Enriko D Klootwijk; Joerg Reinders; Edgar A Otto; Mario Milani; Carsten Broeker; Chris Laing; Julia Wiesner; Sulochana Devi; Weibin Zhou; Roland Schmitt; Ines Tegtmeier; Christina Sterner; Hannes Doellerer; Kathrin Renner; Peter J Oefner; Katja Dettmer; Johann M Simbuerger; Ralph Witzgall; Horia C Stanescu; Simona Dumitriu; Daniela Iancu; Vaksha Patel; Monika Mozere; Mehmet Tekman; Graciana Jaureguiberry; Naomi Issler; Anne Kesselheim; Stephen B Walsh; Daniel P Gale; Alexander J Howie; Joana R Martins; Andrew M Hall; Michael Kasgharian; Kevin O'Brien; Carlos R Ferreira; Paldeep S Atwal; Mahim Jain; Alexander Hammers; Geoffrey Charles-Edwards; Chi-Un Choe; Dirk Isbrandt; Alberto Cebrian-Serrano; Ben Davies; Richard N Sandford; Christopher Pugh; David S Konecki; Sue Povey; Detlef Bockenhauer; Uta Lichter-Konecki; William A Gahl; Robert J Unwin; Richard Warth; Robert Kleta
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

2.  Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.

Authors:  D Coman; J Huang; S McTaggart; O Sakamoto; T Ohura; J McGill; J Burke
Journal:  Pediatr Nephrol       Date:  2005-10-25       Impact factor: 3.714

3.  Long-term management of inherited renal tubular disorders.

Authors:  F Manz; K Schärer
Journal:  Klin Wochenschr       Date:  1982-09-15

4.  Fanconi-Bickel syndrome.

Authors:  F Manz; H Bickel; J Brodehl; D Feist; K Gellissen; B Geschöll-Bauer; G Gilli; E Harms; H Helwig; W Nützenadel
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

5.  An Acadian variant of Fanconi syndrome.

Authors:  Philip Wornell; John Crocker; Andrew Wade; Jason Dixon; Philip Acott
Journal:  Pediatr Nephrol       Date:  2007-08-10       Impact factor: 3.714

6.  Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.

Authors:  G T Berry; L Baker; F S Kaplan; C L Witzleben
Journal:  Pediatr Nephrol       Date:  1995-06       Impact factor: 3.714

7.  Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.

Authors:  Sasigarn A Bowden; Hiren P Patel; Allan Beebe; Kim L McBride
Journal:  Case Rep Pediatr       Date:  2013-12-10

8.  Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.

Authors:  W S Long; M R Seashore; N J Siegel; M J Bia
Journal:  Yale J Biol Med       Date:  1990 Jan-Feb
  8 in total

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