scholarly journals IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome

2020 ◽  
Vol 35 (8) ◽  
pp. 1529-1561 ◽  
Author(s):  
Agnes Trautmann ◽  
◽  
Marina Vivarelli ◽  
Susan Samuel ◽  
Debbie Gipson ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Practice ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Diagnosis And Management ◽  
Practice Recommendations

scholarly journals NPHS2Mutations: A Closer Look to Latin American Countries

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Mara Sanches Guaragna ◽  
Anna Cristina G. B. Lutaif ◽  
Andréa T. Maciel-Guerra ◽  
Vera M. S. Belangero ◽  
Gil Guerra-Júnior ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Practice ◽  
Glomerular Filtration ◽  
Latin American ◽  
Glomerular Filtration Barrier ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Filtration Barrier ◽  
Steroid Sensitive ◽  
Latin American Countries

Nephrotic syndrome is one of the most common kidney pathologies in childhood, being characterized by proteinuria, edema, and hypoalbuminemia. In clinical practice, it is divided into two categories based on the response to steroid therapy: steroid-sensitive and steroid resistant. Inherited impairments of proteins located in the glomerular filtration barrier have been identified as important causes of nephrotic syndrome, with one of these being podocin, coded byNPHS2gene.NPHS2mutations are the most frequent genetic cause of steroid resistant nephrotic syndrome. The aim of this review is to update the list ofNPHS2mutations reported between June 2013 and February 2017, with a closer look to mutations occurring in Latin American countries.

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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