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2016 ; 5
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Cell biology and genetics of minimal change disease
#MMPMID27092244
Saleem MA
; Kobayashi Y
F1000Res
2016[]; 5
(ä): ä PMID27092244
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Minimal change disease (MCD) is an important cause of nephrotic syndrome and is
characterized by massive proteinuria and hypoalbuminemia, resulting in edema and
hypercholesterolemia. The podocyte plays a key role in filtration and its
disruption results in a dramatic loss of function leading to proteinuria.
Immunologic disturbance has been suggested in the pathogenesis of MCD. Because of
its clinical features, such as recurrent relapse/remission course, steroid
response in most patients, and rare familial cases, a genetic defect has been
thought to be less likely in MCD. Recent progress in whole-exome sequencing
reveals pathogenic mutations in familial cases in steroid-sensitive nephrotic
syndrome (SSNS) and sheds light on possible mechanisms and key molecules in
podocytes in MCD. On the other hand, in the majority of cases, the existence of
circulating permeability factors has been implicated along with T lymphocyte
dysfunction. Observations of benefit with rituximab added B cell involvement to
the disease. Animal models are unsatisfactory, and the humanized mouse may be a
good model that well reflects MCD pathophysiology to investigate suggested "T
cell dysfunction" directly related to podocytes in vivo. Several candidate
circulating factors and their effects on podocytes have been proposed but are
still not sufficient to explain whole mechanisms and clinical features in MCD.
Another circulating factor disease is focal segmental glomerulosclerosis (FSGS),
and it is not clear if this is a distinct entity, or on the same spectrum,
implicating the same circulating factor(s). These patients are mostly steroid
resistant and often have a rapid relapse after transplantation. In clinical
practice, predicting relapse or disease activity and response to steroids is
important and is an area where novel biomarkers can be developed based on our
growing knowledge of podocyte signaling pathways. In this review, we discuss
recent findings in genetics and podocyte biology in MCD.
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