ESPN 51th Annual Meeting

ESPN 2018


 
COLLAPSING GLOMERULOPATHY WİTH TRPC6 MUTATİON IN A PATIENT PRESENTING AS RAPIDLY PROGRESSIVE GLOMERULONPHRITIS: A CASE REPORT
HARIKA ALPAY 1 IBRAHIM GOKCE 1 MEHTAP SAK 1 NESLIHAN CICEK 1 HANDAN KAYA 2 CENGIZ CANDAN 3 NURDAN YILDIZ 1

1- MARMARA UNIVERSITY MEDICAL SCHOOL DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- MARMARA UNIVERSITY MEDICAL SCHOOL DEPARTMENT OF MEDICAL PATHOLOGY
3- MEDENIYET UNIVERSITY GOZTEPE RESEARCH AND TRAINING HOSPITAL DEPARTMENT OF PEDIATRIC NEPHROLOGY
 
Introduction:

 Collapsing glomerulopathy(CG) may be considered as a variant of focal segmental glomerulosclerosis(FSGS) or a distinct entity. It is a proliferative disease characterised by segmental or global wrinkling of the glomerular basement membrane and pseudocrescent formation. TRPC6 is a transient receptor potential channel and first identified as a cause of autosomal dominant form of FSGS. We present a case of CG with TRPC6 mutation.

Material and methods:

 Case report 

Results:

A 17-year-old boy who had been diagnosed as IgA Nephropathy one year before in another centre by kidney biopsy admitted to our outpatient clinic with elevated renal function tests and generalized edema.  The father of the patient has been followed for 10 years with the diagnosis of FSGS and IgA nephropathy. His blood pressure was 140/90 mmHg. He had periorbital and pretibial edema. Laboratory evaluation showed elevated renal function tests(BUN: 33mg/dl, creatinine: 3.95mg/dl) and hypoalbuminemia. 24 hour protein excretion was 17.9 gr/day. He was treated with pulse metilprednisolone and intravenous cyclophosphamide. Creatinine levels rapidly increased to 9mg/dl in a month. Plasmapheresis and hemodialysis were initiated. Percutaneus kidney biopsy was performed. Light microscopic examination demonstrated crescent formation in 13 glomeruli out of 18 glomeruli, fibrinoid necrosis, acuttubuler necrosis, some degree of tubular atrophy and interstitial fibrosis and 1 collapsing glomeruli. Immunoflorescence staining was negative. TRPC6 mutation was detected in genetic testing. The patient was diagnosed as CG with clinicopathological findings in addition to genetic mutation.

Conclusions:

The diagnosis of CG is based on conventional microscopic histology due to the marked hyperplasia of podocytes, which can be interpreted as a crescent. The main differential diagnosis of the collapsing variant is extracapillary proliferative glomerulonephritis (crescentic). We should think CG especially in patients with rapidly progressive glomerulonephritis who have a poor response to empirical immunosuppressive therapy and exhibit rapid deterioration of renal function.