What are Rare Kidney Stones?
Four inborn errors of metabolism lead to high concentrations of mineral salts in the urine and severe, recurrent nephrolithiasis. Patients with primary hyperoxaluria (PH), cystinuria, APRT deficiency (dihydroxyadeninuria, DHA), and Dent's disease experience stones beginning in childhood. Deposition of crystals in kidney tissue and loss of kidney function is observed in all disease expression varies widely.
Diseases We Study:
Primary Hyperoxaluria |
Cystinuria |
APRT Deficiency |
Dent Disease |
Lowe Disease |
|---|---|---|---|---|
