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A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
Sho Ishiwa1,2, Koichi Kamei3, Kanako Tanase-Nakao4
1Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
Background:
MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-function mutation in the SAMD9 gene. We encountered a girl with molecularly-confirmed MIRAGE syndrome who developed steroid-resistant nephrotic syndrome.
Case Presentation:
She was born at 33 weeks gestational age with a birth weight of 1064 g. She showed growth failure, mild developmental delays, intractable enteropathy and recurrent pneumonia. She was diagnosed as MIRAGE syndrome by whole exome sequencing and a novel SAMD9 variant (c.4615 T > A, p.Leu1539Ile) was identified at age four. Biopsied skin fibroblast cells showed changes in the endosome system that are characteristic of MIRAGE syndrome, supporting the genetic diagnosis. Proteinuria was noted at age one, following nephrotic syndrome at age five. A renal biopsy showed focal segmental glomerulosclerosis (FSGS) with immune deposits. Steroid treatment was ineffective. Because we speculated that her nephrosis was a result of genetic FSGS, we decided not to introduce immunosuppressive agents and instead started enalapril to reduce proteinuria. Although her proteinuria persisted, her renal function was normal at age eight.
Conclusions:
This is the first detailed report of a MIRAGE syndrome patient with nephrotic syndrome. Because patients with MIRAGE syndrome have structural abnormalities in the endosomal system, we speculate that dysfunction of endocytosis in podocytes might be a possible mechanism for proteinuria.
Insights
MIRAGE syndrome, a rare genetic disorder, can manifest with nephrotic syndrome. This case highlights a patient with MIRAGE syndrome and steroid-resistant nephrotic syndrome, suggesting endosomal dysfunction may cause kidney issues.
Area of Science:
- Genetics and rare diseases
- Pediatric nephrology
- Molecular biology
Background:
- MIRAGE syndrome is a rare genetic disorder caused by SAMD9 gene mutations, characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.
- This report details a molecularly-confirmed MIRAGE syndrome case in a young girl.
Observation:
- The patient presented with typical MIRAGE syndrome features including growth failure, enteropathy, and recurrent infections.
- She developed proteinuria at age one and nephrotic syndrome at age five, unresponsive to steroids.
- Renal biopsy revealed focal segmental glomerulosclerosis (FSGS) with immune deposits.
Findings:
- A novel SAMD9 variant (c.4615T>A, p.Leu1539Ile) was identified, confirming the diagnosis of MIRAGE syndrome.
- Skin fibroblast cells showed characteristic endosomal system abnormalities.
- The patient's nephrotic syndrome was steroid-resistant, leading to treatment with enalapril to manage proteinuria.
Implications:
- This is the first report describing nephrotic syndrome in a patient with MIRAGE syndrome.
- Endosomal system dysfunction in podocytes is a potential mechanism for proteinuria in MIRAGE syndrome.
- Further research is needed to understand the link between SAMD9 mutations and renal pathology.
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