Case Report of Steroid-Resistant Nephrotic Syndrome Children Caused by Mutations in NPHS1

2019 ◽  
Vol 09 (09) ◽  
pp. 1068-1072
Author(s):  
丹 李
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Sho Ishiwa ◽  
Koichi Kamei ◽  
Kanako Tanase-Nakao ◽  
Shinsuke Shibata ◽  
Kunihiro Matsunami ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

Case Report. A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Nephrology ◽  
2004 ◽  
Vol 9 (5) ◽  
pp. 310-312 ◽  
Author(s):  
ESRA ARUN OZER ◽  
NEJAT AKSU ◽  
HAKAN ERDOGAN ◽  
ONDER YAVASCAN ◽  
ORHAN KARA ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Gene Mutation ◽  
Turkish Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

scholarly journals Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Ibrahim Sandokji ◽  
Jonathan Marquez ◽  
Weizhen Ji ◽  
Cynthia A. Zerillo ◽  
Monica Konstantino ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Novel Mutations ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Plasmapheresis in steroid-resistant nephrotic syndrome: a case report

2008 ◽  
Vol 36 (3) ◽  
pp. 116
Author(s):  
KAPP Kanankearachchi ◽  
EHK Jayasinghe ◽  
A Abeygunawardana ◽  
CDA Goonasekera
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

A rare cause of steroid-resistant nephrotic syndrome in a child: Answers

2019 ◽  
Vol 35 (4) ◽  
pp. 621-623
Author(s):  
Lale Guliyeva ◽  
Yılmaz Tabel ◽  
Ali Düzova ◽  
Nusret Akpolat ◽  
Seza Özen ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Suramath Isaranuwatchai ◽  
Ankanee Chanakul ◽  
Chupong Ittiwut ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Treatment Plan ◽  
Unknown Etiology ◽  
Pediatric Case ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Whole Exome

Chronic kidney disease of unknown etiology (CKDu) has been a problem in renal practice as indefinite diagnosis may lead to inappropriate management. Here, we report a 54-year-old father diagnosed with CKDu at 33 years old and his 8-year-old son with steroid-resistant nephrotic syndrome. Using whole-exome sequencing, both were found to be heterozygous for c.737G>A (p.Arg246Gln) in LMX1B. The diagnosis of LMX1B-associated nephropathy has led to changes in the treatment plan with appropriate genetic counseling. The previously reported cases with this particular mutation were also reviewed. Most children with LMX1B-associated nephropathy had nonnephrotic proteinuria with normal renal function. Interestingly, our pediatric case presented with steroid-resistant nephrotic syndrome at 8 years old and progressed to ESRD requiring peritoneal dialysis at the age of 15 years. Our report emphasized the need of genetic testing in CKDu for definite diagnosis leading to precise management.

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