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2014 ; 86
(6
): 1253-9
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Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal
segmental glomerulosclerosis
#MMPMID25229338
Malone AF
; Phelan PJ
; Hall G
; Cetincelik U
; Homstad A
; Alonso AS
; Jiang R
; Lindsey TB
; Wu G
; Sparks MA
; Smith SR
; Webb NJ
; Kalra PA
; Adeyemo AA
; Shaw AS
; Conlon PJ
; Jennette JC
; Howell DN
; Winn MP
; Gbadegesin RA
Kidney Int
2014[Dec]; 86
(6
): 1253-9
PMID25229338
show ga
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many
causes, including inherited genetic defects, with significant proteinuria being
the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4
are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and
to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary
FSGS is known to develop in classic AS at later stages of the disease. Here, we
present seven families with rare or novel variants in COL4A3 or COL4A4 (six with
single and one with two heterozygous variants) from a cohort of 70 families with
a diagnosis of hereditary FSGS. The predominant clinical finding at diagnosis was
proteinuria associated with hematuria. In all seven families, there were
individuals with nephrotic-range proteinuria with histologic features of FSGS by
light microscopy. In one family, electron microscopy showed thin GBM, but four
other families had variable findings inconsistent with classical Alport
nephritis. There was no recurrence of disease after kidney transplantation.
Families with COL4A3 and COL4A4 variants that segregated with disease represent
10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the
interpretation of next-generation sequencing data from such patients.
Furthermore, this study illustrates the power of molecular genetic diagnostics in
the clarification of renal phenotypes.