IllnessHyperoxaluria, primary; differential diagnosis

NGS +

Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones, often leading to end-stage renal disease. Hyperoxaluria results from overproduction of oxalate. Oxalate can form calcium oxalate, the main component of urinary stones, and cause hematuria, urinary tract infections, kidney damage and injury to other organs. Over time, systemic oxalosis can occur in the bones (resulting in fractures) and in the walls of blood vessels. In primary hyperoxaluria type 1, kidney stones typically occur between childhood and early adulthood; end-stage renal disease can develop at any age. Type 2 is similar to type 1, but end-stage kidney disease develops later in the course. In type 3, affected individuals often develop kidney stones in early childhood. Mutations in the AGXT, GRHPR and HOGA1 genes cause primary hyperoxaluria of types 1, 2 and 3, respectively; they prevent glyoxylate breakdown. The disease is inherited in an autosomal recessive manner. A comprehensive differential diagnosis of nephrolithiasis due to calcium oxalate stones includes three other genes. The molecular genetic diagnostic yield exceeds 50%; therefore, a negative mutation test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1283/

• Alias: Congenital oxaluria
• Alias: D-glycerate dehydrogenase deficiency
• Alias: Glyceric aciduria
• Alias: Glycolic aciduria
• Alias: Hepatic AGT deficiency
• Alias: Oxalosis
• Alias: Oxaluria, primary
• Alias: Peroxisomal alanine: glyoxylate aminotransferase deficiency
• Alias: Primary oxalosis
• Alias: Primary oxaluria
• DD: Zellweger disorders: hyperoxaluria appears correlated with degree of neurologic signs
• Adenine phosphoribosyltransferase deficiency (APRT)
• Dent disease 1 (CLCN5)
• Hyperoxaluria, primary, type 1 (AGXT)
• Hyperoxaluria, primary, type II (GRHPR)
• Hyperoxaluria, primary, type III (HOGA1)
• Hypophosphatemic rickets (CLCN5)
• Nephrolithiasis, calcium oxalate (SLC26A1)
• Nephrolithiasis, type I (CLCN5)
• Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)