PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) may manifest non-nephrotic range proteinuria, but is rarely complicated with nephrotic syndrome. Limited number of reports describe the histology of ADPKD with nephrotic syndrome in detail. Case presentation We encountered a 23...

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Main Authors: Yasuhiro Oda, Naoki Sawa, Eiko Hasegawa, Hiroki Mizuno, Masahiro Kawada, Akinari Sekine, Rikako Hiramatsu, Masayuki Yamanouchi, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Kenmei Takaichi, Keiichi Kinowaki, Kenichi Ohashi, Takeshi Fujii, Yoshifumi Ubara
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Nephrology
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12882-019-1524-6
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spelling doaj-7ffc545b18e94b25a56f3bb6418cd0562020-11-25T03:51:35ZengBMCBMC Nephrology1471-23692019-08-012011510.1186/s12882-019-1524-6PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosisYasuhiro Oda0Naoki Sawa1Eiko Hasegawa2Hiroki Mizuno3Masahiro Kawada4Akinari Sekine5Rikako Hiramatsu6Masayuki Yamanouchi7Noriko Hayami8Tatsuya Suwabe9Junichi Hoshino10Kenmei Takaichi11Keiichi Kinowaki12Kenichi Ohashi13Takeshi Fujii14Yoshifumi Ubara15Nephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalNephrology Center, Toranomon HospitalDepartment of Pathology, Toranomon HospitalDepartment of Pathology, Toranomon HospitalDepartment of Pathology, Toranomon HospitalNephrology Center, Toranomon HospitalAbstract Background Autosomal dominant polycystic kidney disease (ADPKD) may manifest non-nephrotic range proteinuria, but is rarely complicated with nephrotic syndrome. Limited number of reports describe the histology of ADPKD with nephrotic syndrome in detail. Case presentation We encountered a 23-year-old man with polycystic kidney disease (PKD) with small kidney volume and nephrotic syndrome, which eventually progressed to end-stage renal disease. Renal histology showed typical focal segmental glomerulosclerosis and remarkable glomerular cyst formation, but did not reveal tubular cysts. PKD1 mutation was detected in him and his father, who also had PKD with small kidney volume. Conclusions In contrast to tubular cysts which develop along ADPKD progression, glomerular cysts may likely be associated with ADPKD with slower volume progression manifesting small kidney volume. Although previous investigations report that ADPKD with smaller kidney volume is attributed to slower decline in renal function, coexistence of nephrotic-range proteinuria implies complication of other glomerular diseases and needs histological evaluation since it may lead to poor renal outcome.http://link.springer.com/article/10.1186/s12882-019-1524-6Autosomal dominant polycystic kidney diseasePKD1Glomerular cystFocal segmental glomerulosclerosis
collection DOAJ
language English
format Article
sources DOAJ
author Yasuhiro Oda
Naoki Sawa
Eiko Hasegawa
Hiroki Mizuno
Masahiro Kawada
Akinari Sekine
Rikako Hiramatsu
Masayuki Yamanouchi
Noriko Hayami
Tatsuya Suwabe
Junichi Hoshino
Kenmei Takaichi
Keiichi Kinowaki
Kenichi Ohashi
Takeshi Fujii
Yoshifumi Ubara
spellingShingle Yasuhiro Oda
Naoki Sawa
Eiko Hasegawa
Hiroki Mizuno
Masahiro Kawada
Akinari Sekine
Rikako Hiramatsu
Masayuki Yamanouchi
Noriko Hayami
Tatsuya Suwabe
Junichi Hoshino
Kenmei Takaichi
Keiichi Kinowaki
Kenichi Ohashi
Takeshi Fujii
Yoshifumi Ubara
PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
BMC Nephrology
Autosomal dominant polycystic kidney disease
PKD1
Glomerular cyst
Focal segmental glomerulosclerosis
author_facet Yasuhiro Oda
Naoki Sawa
Eiko Hasegawa
Hiroki Mizuno
Masahiro Kawada
Akinari Sekine
Rikako Hiramatsu
Masayuki Yamanouchi
Noriko Hayami
Tatsuya Suwabe
Junichi Hoshino
Kenmei Takaichi
Keiichi Kinowaki
Kenichi Ohashi
Takeshi Fujii
Yoshifumi Ubara
author_sort Yasuhiro Oda
title PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
title_short PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
title_full PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
title_fullStr PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
title_full_unstemmed PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
title_sort pkd1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis
publisher BMC
series BMC Nephrology
issn 1471-2369
publishDate 2019-08-01
description Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) may manifest non-nephrotic range proteinuria, but is rarely complicated with nephrotic syndrome. Limited number of reports describe the histology of ADPKD with nephrotic syndrome in detail. Case presentation We encountered a 23-year-old man with polycystic kidney disease (PKD) with small kidney volume and nephrotic syndrome, which eventually progressed to end-stage renal disease. Renal histology showed typical focal segmental glomerulosclerosis and remarkable glomerular cyst formation, but did not reveal tubular cysts. PKD1 mutation was detected in him and his father, who also had PKD with small kidney volume. Conclusions In contrast to tubular cysts which develop along ADPKD progression, glomerular cysts may likely be associated with ADPKD with slower volume progression manifesting small kidney volume. Although previous investigations report that ADPKD with smaller kidney volume is attributed to slower decline in renal function, coexistence of nephrotic-range proteinuria implies complication of other glomerular diseases and needs histological evaluation since it may lead to poor renal outcome.
topic Autosomal dominant polycystic kidney disease
PKD1
Glomerular cyst
Focal segmental glomerulosclerosis
url http://link.springer.com/article/10.1186/s12882-019-1524-6
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