Retrospective diagnosis of nail-patella syndrome

A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being eva...

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Autores principales:	Zaheer A Virani, Prashant Rajput, Hepal Vora, Bharat V Shah
Formato:	article
Lenguaje:	EN
Publicado:	Wolters Kluwer Medknow Publications 2021
Materias:	fsgs kidney transplant lmx1b gene nail-patella syndrome nephrotic syndrome Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/7ab155bf79f74fa899f01b4386478cf7
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spelling	oai:doaj.org-article:7ab155bf79f74fa899f01b4386478cf72021-12-02T19:27:38ZRetrospective diagnosis of nail-patella syndrome0971-40651998-366210.4103/ijn.IJN_172_20https://doaj.org/article/7ab155bf79f74fa899f01b4386478cf72021-01-01T00:00:00Zhttp://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=5;spage=485;epage=487;aulast=Viranihttps://doaj.org/toc/0971-4065https://doaj.org/toc/1998-3662A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was found to have proteinuria and a genetic study for the steroid-resistant nephrotic syndrome was done. This revealed mutation in the LMX1B gene. It is then that a diagnosis of nail-patella syndrome (NPS) was made. She underwent a successful renal transplant with her father as a donor and is doing well.Zaheer A ViraniPrashant RajputHepal VoraBharat V ShahWolters Kluwer Medknow Publicationsarticlefsgskidney transplantlmx1b genenail-patella syndromenephrotic syndromeDiseases of the genitourinary system. UrologyRC870-923ENIndian Journal of Nephrology, Vol 31, Iss 5, Pp 485-487 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	fsgs kidney transplant lmx1b gene nail-patella syndrome nephrotic syndrome Diseases of the genitourinary system. Urology RC870-923
spellingShingle	fsgs kidney transplant lmx1b gene nail-patella syndrome nephrotic syndrome Diseases of the genitourinary system. Urology RC870-923 Zaheer A Virani Prashant Rajput Hepal Vora Bharat V Shah Retrospective diagnosis of nail-patella syndrome
description	A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was found to have proteinuria and a genetic study for the steroid-resistant nephrotic syndrome was done. This revealed mutation in the LMX1B gene. It is then that a diagnosis of nail-patella syndrome (NPS) was made. She underwent a successful renal transplant with her father as a donor and is doing well.
format	article
author	Zaheer A Virani Prashant Rajput Hepal Vora Bharat V Shah
author_facet	Zaheer A Virani Prashant Rajput Hepal Vora Bharat V Shah
author_sort	Zaheer A Virani
title	Retrospective diagnosis of nail-patella syndrome
title_short	Retrospective diagnosis of nail-patella syndrome
title_full	Retrospective diagnosis of nail-patella syndrome
title_fullStr	Retrospective diagnosis of nail-patella syndrome
title_full_unstemmed	Retrospective diagnosis of nail-patella syndrome
title_sort	retrospective diagnosis of nail-patella syndrome
publisher	Wolters Kluwer Medknow Publications
publishDate	2021
url	https://doaj.org/article/7ab155bf79f74fa899f01b4386478cf7
work_keys_str_mv	AT zaheeravirani retrospectivediagnosisofnailpatellasyndrome AT prashantrajput retrospectivediagnosisofnailpatellasyndrome AT hepalvora retrospectivediagnosisofnailpatellasyndrome AT bharatvshah retrospectivediagnosisofnailpatellasyndrome
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Retrospective diagnosis of nail-patella syndrome

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