serval:BIB_DF1B2E1F0453
Two new families with hereditary minimal change disease.
10.1186/1471-2369-14-65
000317073100001
23517548
Chehade
H.
author
Cachat
F.
author
Girardin
E.
author
Rotman
S.
author
Correia
A.J.
author
Fellmann
F.
author
Bonny
O.
author
article
casereport
2013-03-22
BMC nephrology
1471-2369
1471-2369
journal
14
65
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.
Adolescent
Adult
Child
Child, Preschool
Humans
Male
Nephrosis, Lipoid/diagnosis
Nephrosis, Lipoid/genetics
Pedigree
eng
60_published
true
peer-reviewed
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
University of Lausanne
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