Atypical glomerulopathy associated with the cblE inborn error of vitamin B12 metabolism
| Autor: | David Watkins, Bernard S. Kaplan, Marta Guttenberg, Paige Kaplan, James R. Treat, David S. Rosenblatt, Erin A. Paul |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Nephrology
medicine.medical_specialty Pathology Thrombotic microangiopathy medicine.diagnostic_test business.industry Kidney metabolism urologic and male genital diseases medicine.disease Endocrinology Glomerulopathy Internal medicine Pediatrics Perinatology and Child Health Membranoproliferative glomerulonephritis medicine Renal biopsy CBLC business Proximal renal tubular acidosis |
| Zdroj: | Pediatric Nephrology. 28:1135-1139 |
| ISSN: | 1432-198X 0931-041X |
| Popis: | The cblE disorder is an inherited disorder of vitamin B12 metabolism that results in elevated levels of homocysteine and decreased methionine in body fluids. Renal complications have been reported in patients with cblC disease, but not in those with cblE disease. The renal complications of cblC disease include thrombotic microangiopathy (TMA), neonatal hemolytic uremic syndrome, chronic renal failure, tubulointerstitial nephritis and proximal renal tubular acidosis. Previously, we reported a patient with cblC disease who had an atypical glomerulopathy that manifested with proteinuria and progressive renal insufficiency. Studies were done on cultured fibroblasts. Renal biopsy tissue was examined by light and electron microscopy. There was decreased incorporation of labeled methyltetrahydrofolate and decreased synthesis of methylcobalamin. Complementation analysis placed the patient into the cblE complementation group. The findings from the histological and ultrastructural studies of renal biopsy were similar, but not identical, to those of idiopathic membranoproliferative glomerulonephritis (MPGN) and overlapped with those of TMA. We describe a patient with cblE disease who had an atypical glomerulopathy similar to MPGN. Additional findings included migraine headaches, hypothyroidism and livedo reticularis. |
| Databáze: | OpenAIRE |
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