Two new families with hereditary minimal change disease.

Details

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State: Public
Version: Final published version
Serval ID
serval:BIB_DF1B2E1F0453
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Two new families with hereditary minimal change disease.
Journal
BMC nephrology
Author(s)
Chehade H., Cachat F., Girardin E., Rotman S., Correia A.J., Fellmann F., Bonny O.
ISSN
1471-2369 (Electronic)
ISSN-L
1471-2369
Publication state
Published
Issued date
22/03/2013
Peer-reviewed
Oui
Volume
14
Pages
65
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
Steroid-sensitive idiopathic nephrotic syndrome (SSINS) is most often encountered in sporadic cases of minimal change disease (MCD). Only rare cases of familial forms of MCD have been reported and most of them only in one generation. The scarcity of data has precluded unraveling the underlying genetic defect and candidate gene approaches have been unsuccessful. Here we report two families with related SSINS cases and review the related literature.
Two siblings and a cousin (first family), and a father and his son (second family), are reported with SSINS due to MCD. Patients have been followed up for more than 12 years and a renal biopsy was performed in three cases, demonstrating typical features of MCD. The course of the disease was remarkable because of several relapses treated with steroids. In three cases, mycophenolate mofetil or cyclosporine was added.
Familial SSINS due to MCD is extremely rare and no genetic defect has been identified so far. Reporting cases of hereditary MCD will allow further genetic studies which will ultimately help unravel the molecular basis of this disease.

Keywords
Adolescent, Adult, Child, Child, Preschool, Humans, Male, Nephrosis, Lipoid/diagnosis, Nephrosis, Lipoid/genetics, Pedigree
Pubmed
Web of science
Open Access
Yes
Create date
24/04/2013 7:44
Last modification date
20/10/2020 10:08
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