scholarly journals 254C>G: a TRPC6 promoter variation associated with enhanced transcription and steroid-resistant nephrotic syndrome in Chinese children

2013 ◽  
Vol 74 (5) ◽  
pp. 511-516 ◽  
Author(s):  
Xin-Yu Kuang ◽  
Wen-Yan Huang ◽  
Hong Xu ◽  
Yu Shi ◽  
Xiu-Ling Zhang ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Chinese Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children

2005 ◽  
Vol 20 (5) ◽  
pp. 902-908 ◽  
Author(s):  
Zihua Yu ◽  
Jie Ding ◽  
Jianping Huang ◽  
Yong Yao ◽  
Huijie Xiao ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Chinese Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome

2017 ◽  
Vol 32 (7) ◽  
pp. 1181-1192 ◽  
Author(s):  
Fang Wang ◽  
Yanqin Zhang ◽  
Jianhua Mao ◽  
Zihua Yu ◽  
Zhuwen Yi ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Chinese Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Mutational spectrum and novel candidate genes in Chinese children with sporadic steroid-resistant nephrotic syndrome

2019 ◽  
Vol 85 (6) ◽  
pp. 816-821 ◽  
Author(s):  
Jianguo Li ◽  
Lijun Wang ◽  
Ling Wan ◽  
Tiantian Lin ◽  
Wentao Zhao ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Candidate Genes ◽  
Chinese Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Mutational Spectrum

Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children

Gene ◽  
2017 ◽  
Vol 625 ◽  
pp. 15-20 ◽  
Author(s):  
Ying Wang ◽  
Xiqiang Dang ◽  
Qingnan He ◽  
Yan Zhen ◽  
Xiaoxie He ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Chinese Children ◽  
Mutation Spectrum ◽  
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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