Literature DB >> 2404215

Charcot-Marie-Tooth disease and nephropathy in a mother and daughter with a review of the literature.

M D Paul1, D Fernandez, W Pryse-Phillips, M H Gault.   

Abstract

We report a mother-and-child combination of Charcot-Marie-Tooth disease and nephropathy. The mother received a cadaveric renal transplant, and the daughter has heavy proteinuria with normal glomerular filtration rate. There have been 7 single case reports of both disease entities and 1 report of 3 patients which includes the only sib pair. The related literature is reviewed.

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Year:  1990        PMID: 2404215     DOI: 10.1159/000185814

Source DB:  PubMed          Journal:  Nephron        ISSN: 1660-8151            Impact factor:   2.847


  3 in total

1.  Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.

Authors:  Patricia Q Rodriguez; Bernhard Lohkamp; Gianni Celsi; Christoph Johannes Mache; Michaela Auer-Grumbach; Annika Wernerson; Nobuyuki Hamajima; Karl Tryggvason; Jaakko Patrakka
Journal:  Pediatr Nephrol       Date:  2012-09-11       Impact factor: 3.714

Review 2.  INF2 p.Arg214Cys mutation in a Chinese family with rapidly progressive renal failure and follow-up of renal transplantation: case report and literature review.

Authors:  Wenbo Zhao; Xinxin Ma; Xiaohao Zhang; Dan Luo; Jun Zhang; Ming Li; Zengchun Ye; Hui Peng
Journal:  BMC Nephrol       Date:  2021-02-04       Impact factor: 2.388

3.  Membranous Nephropathy in a Patient with Charcot-Marie-Tooth Disease: Association of Myelin Mutations.

Authors:  U Anandh; R Nikalji; A Parick
Journal:  Indian J Nephrol       Date:  2018 Sep-Oct
  3 in total

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