کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3851056 | 1598357 | 2008 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Familial Focal Segmental Glomerulosclerosis Associated With an ACTN4 Mutation and Paternal Germline Mosaicism
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Mutations in the ACTN4 gene cause focal segmental glomerulosclerosis (FSGS), which shows autosomal dominant inheritance (Online Mendelian Inheritance in Man No. 603278, FSGS1). Most patients with a diagnosis of FSGS1 show a mild to moderate degree of proteinuria during adolescence or later, and some patients gradually progress to end-stage renal disease. Here, we report a familial case of FSGS1 in which 2 affected siblings showed unusual clinical, pathological, and genetic features. Both patients presented with full-blown rapidly progressing nephrotic syndrome in early childhood. Renal pathological findings were of an FSGS collapsing variant and FSGS not otherwise specified. A novel ACTN4 mutation, p.Ser262Phe, was detected in the patients, and their father was found to have a germline mosaicism for the mutation. In addition, these siblings also had a heterozygous p.Thr5Met substitution in NPHS1, which encodes nephrin, although the functional significance of this substitution is unclear. This is the third clinical report of FSGS1 and the first case report of germline mosaicism confirmed in patients with hereditary podocyte disorders. FSGS1 may have widely variable clinical and pathological phenotypes and therefore should be considered in young children with full-blown and rapidly progressing nephrotic syndrome. The possibility of germline mosaicism makes interpretation of molecular diagnoses and genetic counseling more difficult.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: American Journal of Kidney Diseases - Volume 51, Issue 5, May 2008, Pages 834-838
Journal: American Journal of Kidney Diseases - Volume 51, Issue 5, May 2008, Pages 834-838
نویسندگان
Hyun Jin MD, Beom Hee MD, Hee Yeon MD, Kyung Chul MD, PhD, Il Soo MD, PhD, Michio MD, PhD, Yong MD, PhD, Hae Il MD, PhD,