scholarly journals Genotypic and Phenotypic Features of Both NPHS1 and NPHS2 Genes in Infantile Nephrotic Syndrome and Prognostic Effect of E117K Polymorphism in NPHS1 Gene

2019 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ebru Yılmaz ◽  
Nida Dinçel ◽  
İpek Kaplan Bulut ◽  
Afig Berdeli ◽  
Sevgi Mir
Keyword(s):  
Nephrotic Syndrome ◽  
Prognostic Effect ◽  
Infantile Nephrotic Syndrome ◽  
Nphs1 Gene ◽  
Phenotypic Features

Genetics of congenital and infantile nephrotic syndrome

2019 ◽  
Vol 15 (2) ◽  
pp. 198-203 ◽  
Author(s):  
Sara Nawfal Sharief ◽  
Nada Abdullatif Hefni ◽  
Walaa Ali Alzahrani ◽  
Iman Ibrahim Nazer ◽  
Marwa Abdullah Bayazeed ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Infantile Nephrotic Syndrome

Infantile nephrotic syndrome and congenital glaucoma

2001 ◽  
Vol 16 (11) ◽  
pp. 894-897 ◽  
Author(s):  
J. A. Kari ◽  
Hussain Bamashmous ◽  
Sattam Lingawi ◽  
Essam Al-Sabban ◽  
Mohammed Akhtar
Keyword(s):  
Nephrotic Syndrome ◽  
Congenital Glaucoma ◽  
Infantile Nephrotic Syndrome

Congenital microcephaly and infantile nephrotic syndrome ? a case report

1994 ◽  
Vol 8 (1) ◽  
pp. 72-73 ◽  
Author(s):  
Fato? Yal�inkaya ◽  
Necmiye T�mer ◽  
Mesiha Ekim ◽  
Semanur Kuyucu ◽  
Nilg�n �akar ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Case Report ◽  
Infantile Nephrotic Syndrome ◽  
Congenital Microcephaly

scholarly journals Clear evidence of LAMA5 gene biallelic truncating variants causing infantile nephrotic syndrome

Kidney360 ◽  
2021 ◽  
pp. 10.34067/KID.0004952021
Author(s):  
Yukimasa Taniguchi ◽  
China Nagano ◽  
Kiyotoshi Sekiguchi ◽  
Atsushi Tashiro ◽  
Noriko Sugawara ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Splice Site ◽  
Japanese Patients ◽  
Compound Heterozygous ◽  
Missense Variants ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
Infantile Nephrotic Syndrome ◽  
Splice Site Variant

Background: Pathogenic variants in single genes encoding podocyte-associated proteins have been implicated in about 30% of steroid resistant nephrotic syndrome (SRNS) patients in children. However, LAMA5 gene biallelic variants have been identified in only 7 patients so far, and most are missense variants of unknown significance. Furthermore, no functional analysis had been conducted for all but one of these variants. Here, we report three patients with LAMA5 gene biallelic truncating variants manifesting infantile nephrotic syndrome and one SRNS case with biallelic LAMA5 missense variants. Methods: We conducted comprehensive gene screening of Japanese patients with severe proteinuria. Using targeted next-generation sequencing, 62 podocyte-related genes were screened in 407 unrelated patients with proteinuria. For the newly discovered LAMA5 variants, we conducted in vitro heterotrimer formation assays. Results: Biallelic truncating variants in the LAMA5 gene (NM_005560) were detected in 3 patients from 2 families. All patients presented with proteinuria within 6 months of age. Patients 1 and 2 were siblings possessing a nonsense variant (c.9232C>T, p.(Arg3078*)) and a splice site variant (c.1282+1G>A) that led to exon 9 skipping and a frameshift. Patient 3 had a remarkable irregular contour of the glomerular basement membrane. She was subsequently found to have a nonsense variant (c.8185C>T, p.(Arg2720*)) and the same splice site variant in patients 1 and 2. By in vitro heterotrimer formation assays, both truncating variants produced smaller laminin α5 proteins that nevertheless formed trimers with laminin β1 and γ1 chains. Patient 4 showed SRNS at the age of eight and carried compound heterozygous missense variants (c.1493C>T, p.(Ala498Val) and c.8399G>A, p.(Arg2800His)). Conclusions: Our patients showed clear evidence of biallelic LAMA5 truncating variants causing infantile nephrotic syndrome. We also discerned the clinical and pathological characteristics observed in LAMA5-related nephropathy. LAMA5 variant screening should be performed in congenital/infantile nephrotic syndrome patients.

NPHS1 Gene Mutations in Children with Nephrotic Syndrome in Northwest Iran

2013 ◽  
Vol 16 (17) ◽  
pp. 882-886 ◽  
Author(s):  
A.G. Behbahan ◽  
B. Poorshiri ◽  
F. Mortazavi ◽  
M.S. Khaniani ◽  
S.M. Derakhshan
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutations ◽  
Nphs1 Gene ◽  
Northwest Iran

Infantile nephrotic syndrome, immunodeficiency and adrenal insufficiency—a rare cause: Answers

2022 ◽  
Author(s):  
Georgie Mathew ◽  
M. S. Yasmeen ◽  
R. V. Deepthi ◽  
Meenakshi Swain ◽  
Avinash Vattam ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Infantile Nephrotic Syndrome

Non-genetic congenital and infantile nephrotic syndrome: New diagnostic and therapeutic management

2017 ◽  
Vol 24 (12) ◽  
pp. 1331
Author(s):  
J.-M. de Guillebon de Resnes ◽  
G. Deschênes ◽  
O. Niel
Keyword(s):  
Nephrotic Syndrome ◽  
Therapeutic Management ◽  
Infantile Nephrotic Syndrome

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome

2016 ◽  
Vol 95 (1) ◽  
pp. 161-166 ◽  
Author(s):  
FENGJIE YANG ◽  
YAXIAN CHEN ◽  
YU ZHANG ◽  
LIRU QIU ◽  
YU CHEN ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutations ◽  
Congenital Nephrotic Syndrome ◽  
Chinese Family ◽  
Nphs1 Gene

scholarly journals A cross-sectional nationwide survey of congenital and infantile nephrotic syndrome in Japan

2020 ◽  
Author(s):  
Yuko Hamasaki ◽  
Riku Hamada ◽  
Masaki Muramatsu ◽  
Shinsuke Matsumoto ◽  
Kunihiko Aya ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Kidney Disease ◽  
Congenital Nephrotic Syndrome ◽  
Nationwide Survey ◽  
The Other ◽  
End Stage Kidney Disease ◽  
Cross Sectional ◽  
Infantile Nephrotic Syndrome ◽  
Finnish Type ◽  
End Stage

Abstract Background: Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) cause substantial morbidity and mortality. In Japan, there is a lack of knowledge regarding the characteristics of CNS and INS. This study aimed to clarify the characteristics of CNS and INS in Japan.Methods: This cross-sectional nationwide survey obtained data from 44 institutions in Japan managing 92 patients with CNS or INS by means of two survey questionnaires sent by postal mail. Patients aged <16 years by 1 April 2015, with a diagnosis of CNS or INS, were included in this study. The primary outcome was end-stage kidney disease.Results: A total of 83 patients with CNS or INS were analyzed. The most frequent disease type was non-Finnish (60.2%); 33 patients (39.8%) had Finnish type. Among those with non-Finnish-type disease, 26 had no syndrome and 24 had a syndrome, of which the most frequent was Denys–Drash syndrome (70.8%). Patients with non-Finnish-type disease with syndrome showed the earliest progression to end-stage kidney disease compared with the other two groups, whereas patients with non-Finnish-type disease without syndrome progressed more slowly compared with the other two groups. In the Finnish-type group, the disease was diagnosed the earliest; a large placenta was reported more frequently; genetic testing was more frequently performed (93.8%); mental retardation was the most frequent extra-renal symptom (21.2%); and thrombosis and infection were more frequent compared with the other groups. Patients with non-Finnish-type disease with syndrome had a higher frequency of positive extra-renal symptoms (79.2%), the most common being urogenital symptoms (54.2%). Treatment with steroids and immunosuppressants was more frequent among patients with non-Finnish-type disease without syndrome. Two patients with non-Finnish-type disease without syndrome achieved complete remission. In all groups, unilateral nephrectomy was performed more often than bilateral nephrectomy and peritoneal dialysis was the most common renal replacement therapy.Conclusions: The present epidemiological survey sheds light on the characteristics of children with CNS and INS in Japan. A high proportion of patients underwent genetic examination, and patient management was in accord with current treatment recommendations and practices.Trial registration: Not applicable.

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