Nephrocalcinosis or Nephrolithiasis Panel

Nephrocalcinosis is the generalized deposition of calcium in the kidneys, while nephrolithiasis is the formation of kidney stones. Both conditions are multifactorial, with genetics playing a significant role, often through inherited metabolic disorders that lead to an imbalance of minerals in the urine. Some common genetic causes include hereditary distal renal tubular acidosis (dRTA) and conditions causing hypercalciuria (elevated urine calcium levels), hyperoxaluria (high levels of oxalate in the urine), or renal phosphate wasting (when the kidneys excrete too much phosphate, which can be caused by genetic conditions like Fanconi syndrome). Genes that encode ion channels and transporters are frequently implicated, as they regulate the movement of minerals like calcium and phosphate in and out of cells and into the urine. Genetic disorders causing nephrocalcinosis or nephrolithiasis are inherited in various ways depending on the specific gene mutation. This can include autosomal dominant, autosomal recessive, or X-linked patterns.