scholarly journals Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center

2017 ◽  
Vol 33 (2) ◽  
pp. 305-314 ◽  
Author(s):  
Weizhen Tan ◽  
Svjetlana Lovric ◽  
Shazia Ashraf ◽  
Jia Rao ◽  
David Schapiro ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Single Center ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome

scholarly journals Immunosupressive therapy in children with steroid-resistant nephrotic syndrome: single center experience

2013 ◽  
Vol 35 (3) ◽  
pp. 200-205 ◽  
Author(s):  
Catalina Velez Echeverri ◽  
Gustavo Adolfo Zuluaga Valencia ◽  
Lina Maria Serna Higuita ◽  
Ana Katherina Serrano Gayubo ◽  
Carolina Lucia Ochoa ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Single Center ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Single Center Experience ◽  
Immunosupressive Therapy

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.

scholarly journals MP032NEXT GENERATION GENE PANEL SCREENING IN STEROID-RESISTANT NEPHROTIC SYNDROME

2016 ◽  
Vol 31 (suppl_1) ◽  
pp. i353-i353
Author(s):  
Beata S. Lipska-Ziętkiewicz ◽  
Olivia Boyer ◽  
Olivier Gribouval ◽  
Mansoureh Tabatabaei ◽  
Cecile Fourrage ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Panel ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome
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