Rare case of nephrotic syndrome: Schimke syndrome

Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia; Aguiar, Lia Cordeiro Bastos

doi:10.5935/0101-2800.20160057

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…The homozygous R561C mutation was detected in a young boy aged 18 months who presented with significantly diminished CD4 þ T cells, which is a typical immune defect, and this required long-term follow-up. Another homozygous K647T mutation was detected in a young Algerian (1994) 22 1-1 1-1 (2015) 25 1-1 26 1-1 Turkish 1-1…”

Section: Discussionmentioning

confidence: 99%

“…For a better understanding the phenotype and genotype, we summarized the reported cases of mild SIOD that were reported in the literature ( Table 3 ). 4 – 6 , 20 , 22 – 26 Sixteen cases (including four pairs of siblings) with mild SIOD have been summarized. The male-to-female ratio was 7:9, and 81.25% (13/16) of the patients were over 10 years of age.…”

Section: Discussionmentioning

confidence: 99%

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A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

Wang

et al. 2021

J Int Med Res

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Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive inherited disorder that is caused by the SMARCAL1 mutation. The phenotype can vary from mild to severe on the basis of the patient’s age at onset. Herein, we report the case of a 14-year-old Chinese boy who presented with short stature, focal segmental glomerulosclerosis (FSGS), and facial dysmorphism. Genetic analysis revealed two compound heterozygous missense mutations, including a well-known mutation (c.1933C>T, p.R645C) and a novel mutation (c.2479G>A, p.V827M) in the SMARCAL1 gene, which were inherited from his parents. In silico analyses showed that the c.2479G>A (p.V827M) variant affects a highly conserved residue within the ATPase catalytic domain. Finally, we established the diagnosis of mild SIOD and treated the patient with diuretics and angiotensin receptor blockers. This report expands the mutational spectrum of SMARCAL1 and reinforces the importance of a detailed clinical evaluation, molecular detection, and appropriate genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

Wang

et al. 2021

J Int Med Res

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Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene

Castellano-Martínez

Acuñas-Soto

Varga-Martínez

et al. 2022

EMIDDT

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Background: Schimke immuno-osseous dysplasia (SIOD) is a very rare autosomal recessive genetic disease caused by mutations in the SMARCAL1 gene. It is characterized by spondyloepiphyseal dysplasia, T-cell immunodeficiency, hypercromic nevi, hypercholesterolemia and steroid-resistant nephrotic syndrome with progressive renal failure to end-stage kidney disease. Case presentation: We report two cases of SIOD in sisters, diagnosed after the debut of nephrotic syndrome. Both had a personal history of short stature, acetabular hip dysplasia and hypercholesterolemia. The first case, a 6 year-old girl, presented peripheral refractory edema, severe arterial hypertension and progressive decrease of the glomerular filtration rate. Steroid-resistance of nephrotic syndrome was confirmed, treated with tacrolimus without response. Renal function worsened over the following 4 months, so haemodialysis was started. Her sister, a 5 years-old girl, had steroid-resistant nephrotic syndrome, who is currently with normal blood pressure and normal renal function under enalapril treatment. In view of the suspicion of SIOD, the genetic studies were carried out, revealing the same mutation in homozygosis. Conclusions: SIOD has a variable expression with multi-systemic involvement with a short life expectancy. The early diagnosis is important, which can encourage the early start of treatment and anticipation of complications that may be life-threatening.

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T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent

Marín

Jiménez-Reinoso²,

Mazariegos³

et al. 2022

Front. Immunol.

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Schimke immuno-osseous dysplasia (SIOD) caused by mutations in SMARCAL1 is an ultra-rare disease characterized by specific facial features, skeletal dysplasia, and steroid-resistant nephrotic syndrome, which often leads to kidney failure and requires transplantation. Cellular (T-cell) deficiency, lymphopenia, and infections have been frequently reported, but whether they are due to T-cell-intrinsic defects in T-cell receptor (TCR) signaling associated with SMARCAL1 deficiency or to T-cell-extrinsic effects such as the impaired proliferation of hematopoietic precursors or T-cell-specific immunosuppression after renal transplantation remains unknown. We have explored the effects of SMARCAL1 deficiency on T-cell receptor signaling in primary and immortalized T cells from a 9-year-old SIOD patient under immunosuppression treatment when compared to healthy donors. Immortalized T cells recapitulated the SMARCAL1 deficiency of the patient, as judged by their impaired response to gamma irradiation. The results indicated that TCR-mediated signaling was normal in SIOD-derived immortalized T cells but strongly impaired in the primary T cells of the patient, although rescued with TCR-independent stimuli such as PMA + ionomycin, suggesting that SIOD-associated T-cell signaling is not intrinsically defective but rather the result of the impaired proliferation of hematopoietic precursors or of T-cell-specific immunosuppression. The lack of early thymic emigrants in our patients may support the former hypothesis.

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Rare case of nephrotic syndrome: Schimke syndrome

Cited by 3 publications

References 7 publications

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

A novel compound heterozygous variant in SMARCAL1 leading to mild Schimke immune-osseous dysplasia identified using whole-exome sequencing

Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene

T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent

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