An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions

AbstractArthrogryposis, renal dysfunction, and cholestasis syndrome is a rare autosomal recessive disorder caused by mutations in the VPS33B and VIPAR genes. Most cases are fatal within the first year of life. Here we describe one of the two oldest patients with arthrogryposis, renal dysfunction, and cholestasis syndrome. This is a 12-year-old Hispanic female, from a non-consanguineous parents, diagnosed with an incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome with arthrogryposis and renal tubular dysfunction but without cholestasis. At 11 years of age, she was found to have impaired renal function, nephrotic-range proteinuria, Fanconi syndrome, and distal renal tubular acidosis. She also had hypercalciuria, nephrogenic diabetes insipidus, and small kidneys by renal ultrasound. Genetic analysis using whole exome sequencing showed a mutation and a partial deletion in the VPS33B gene. Further studies showed that the mother has a partial deletion in the VPS33B gene. Her medication regimen includes potassium citrate and enalapril.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research

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We describe a unique, complex case of a man resulted affected by both APS-2 and MEN-2a. The patient developed Hashimoto's thyroiditis, diabetes mellitus type 1 and AAD, despite testing negative for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OHAb). Moreover, he had also a family history for MEN-2a and he first developed medullay thyroid cancer, then bilateral pheochromocytoma on the adrenal substrate of an AAD. On adrenal histology we found complete bilateral cortical atrophy in the presence of a lymphocytic infiltration and fibrosis, confirming an ACA and 21-OHAb-negative AAD. This da...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Journal of Environmental Pathology, Toxicology and Oncology - Category: Environmental Health Tags: J Environ Pathol Toxicol Oncol Source Type: research
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Source: Journal of Environmental Pathology, Toxicology and Oncology - Category: Environmental Health Tags: J Environ Pathol Toxicol Oncol Source Type: research
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Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
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Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research
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Source: Nano Today - Category: Nanotechnology Source Type: research
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