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

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

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

scholarly journals Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

2017 ◽  
Vol 127 (3) ◽  
pp. 942-953 ◽  
Author(s):  
Rathi Prasad ◽  
Irene Hadjidemetriou ◽  
Avinaash Maharaj ◽  
Eirini Meimaridou ◽  
Federica Buonocore ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Primary Adrenal Insufficiency ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Sphingosine 1 Phosphate

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

scholarly journals SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

2018 ◽  
Vol 104 (5) ◽  
pp. 1484-1490 ◽  
Author(s):  
Nikolaos Settas ◽  
Rebecca Persky ◽  
Fabio R Faucz ◽  
Nicole Sheanon ◽  
Antonis Voutetakis ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Primary Adrenal Insufficiency ◽  
Sphingosine 1 Phosphate ◽  
Recessive Genes ◽  
Initiation Of Therapy ◽  
Glucocorticoid Deficiency

Abstract Context Multiple autosomal recessive genes have been etiologically linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI. Objective To check if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit nephrotic syndrome. Methods Sequencing of the SGPL1 gene in 21 patients with familial glucocorticoid disease or triple A syndrome. Results We identified two missense SGPL1 variants in four patients, two of whom were first cousins. We describe in detail the proband, a boy born to Saudi Arabian consanguineous parents with a homozygous c.665G>A, p.R222Q SGPL1 variant. The patient presented with hypoglycemia and seizures at age 2 years and was ultimately diagnosed with PAI (isolated glucocorticoid deficiency). Brain MRI showed abnormalities in the basal ganglia consistent with a degenerative process albeit the patient had no neurologic symptoms. Conclusions New genetic causes of PAI continue to be identified. We suggest that screening for SGPL1 mutations should not be reserved only for patients with nephrotic syndrome but may also include patients with PAI who lack other clinical manifestations of NPHS14 because, in certain cases, kidney disease and accompanying features might develop. Timely diagnosis of this specific sphingolipidosis while the kidneys still function normally can lead to prompt initiation of therapy and improve outcome.

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 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

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.

scholarly journals Adrenal Insufficiency in Children With Nephrotic Syndrome on Corticosteroid Treatment

2020 ◽  
Vol 8 ◽  
Author(s):  
Karmila Abu Bakar ◽  
Khairunnisa Khalil ◽  
Yam Ngo Lim ◽  
Yok Chin Yap ◽  
Mirunalini Appadurai ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Adrenal Insufficiency ◽  
Corticosteroid Treatment
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