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Titel:

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.

Dokumenttyp:
Journal Article
Autor(en):
Najafi, Maryam; Riedhammer, Korbinian M; Rad, Aboulfazl; Torbati, Paria Najarzadeh; Berutti, Riccardo; Schüle, Isabel; Schroda, Sophie; Meitinger, Thomas; Ćomić, Jasmina; Bojd, Simin Sadeghi; Baranzehi, Tayebeh; Shojaei, Azadeh; Azarfar, Anoush; Khazaei, Mahmood Reza; Köttgen, Anna; Backofen, Rolf; Karimiani, Ehsan Ghayoor; Hoefele, Julia; Schmidts, Miriam
Abstract:
BACKGROUND: Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS. Over the past decade, extensive genetic heterogeneity has become evident while disease-causing variants are still only identified in 30% of cases in previously reported studies with proportion and type of variants identified differing depending on the age of...     »
Zeitschriftentitel:
Front Pediatr
Jahr:
2022
Band / Volume:
10
Volltext / DOI:
doi:10.3389/fped.2022.974840
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36245711
TUM Einrichtung:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
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