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Immunotactoid glomerulopathy in a child with Down syndrome
T Takemura1, K Yoshioka, N Akano
1Department of Paediatrics, Kinki University School of Medicine, Osaka-Sayama, Japan.
Pediatric Nephrology (Berlin, Germany)
|February 1, 1993
Summary
This study reports a rare case of immunotactoid glomerulopathy in a child with Down syndrome. The condition presented with progressive proteinuria and was confirmed by kidney biopsy, showing characteristic fibrillary deposits.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- Down syndrome (21-trisomy) is a common chromosomal abnormality.
- Proteinuria and hematuria can indicate underlying kidney disease.
Observation:
- A 9-year-old girl with Down syndrome presented with proteinuria and microscopic hematuria starting at age 6.
- Progressive proteinuria occurred over 3 years with normal blood pressure and renal function.
- No systemic diseases, monoclonal gammopathy, or plasmacytoma were identified.
Findings:
- Percutaneous renal biopsy revealed immunotactoid glomerulopathy, also known as fibrillary glomerulonephritis.
- Histopathology showed glomerular basement membrane thickening, mesangial expansion, and nodule formation.
- Deposits contained IgG, kappa and lambda light chains, and complement components (C3, C4, C1q), with characteristic large fibrils (15-17 nm).
- Congo red and thioflavine T staining were negative, ruling out amyloidosis.
Implications:
- This is the first reported case of immunotactoid glomerulopathy in a patient with chromosomal abnormalities, specifically Down syndrome.
- Highlights the importance of considering rare glomerular diseases in children with genetic syndromes and kidney abnormalities.
- Further research may elucidate potential links between chromosomal abnormalities and the development of specific glomerulopathies.