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...
Main Authors: | , , , , , , , , , , , , , , , |
---|---|
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 |
id |
doaj-7ffc545b18e94b25a56f3bb6418cd056 |
---|---|
record_format |
Article |
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 |
work_keys_str_mv |
AT yasuhirooda pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT naokisawa pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT eikohasegawa pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT hirokimizuno pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT masahirokawada pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT akinarisekine pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT rikakohiramatsu pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT masayukiyamanouchi pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT norikohayami pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT tatsuyasuwabe pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT junichihoshino pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT kenmeitakaichi pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT keiichikinowaki pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT kenichiohashi pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT takeshifujii pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis AT yoshifumiubara pkd1associatedautosomaldominantpolycystickidneydiseasewithglomerularcystspresentingwithnephroticsyndromecausedbyfocalsegmentalglomerulosclerosis |
_version_ |
1724486710545350656 |