The molecular basis of kidney stones.
OBJECTIVE
To emphasize an exploration of mechanisms of kidney stone disease based on a molecular understanding of excess urinary excretions of calcium, oxalate, cystine, and uric acid.


RESULTS
Hypercalciuria is discussed relative to mutations in the renal chloride genes CLCN5 and CLCNKB, WNK kinases, ATPB61, and NPT2. Hyperoxaluria is discussed relative to mutations in AGXT and GRHPR. Cystinuria is discussed relative to mutations in SLC3A1 and SLC7A9. Hyperuricosuria is discussed with novel gene findings, and hyperxanthinuria with new findings in XDH.


CONCLUSIONS
An enhanced understanding of the diagnosis, course, and prognosis for genetic causes of kidney stone diseases has been made available to the clinician caring for patients with kidney stones and to the scientist interested in their cause, as a result of molecular breakthroughs in the kidney handling of normal urinary constituents. We look forward to a new era of the therapeutics of kidney stones based on such advances.
Langman
Craig B
CB
Feinberg School of Medicine, Northwestern University, Kidney Diseases, Children's Memorial Hospital, Chicago, Illinois 60614, USA. c_langman@northwestern.edu
D018118:Chloride Channels; D003555:Cystinuria / Q000150:complications; D006801:Humans; D006959:Hyperoxaluria / Q000150:complications; D017674:Hypophosphatemia / Q000150:complications; D007669:Kidney Calculi / Q000235:genetics*; D028021:Sodium-Potassium-Chloride Symporters / Q000235:genetics; D064466:Solute Carrier Family 12, Member 1
C097503:CLC-5 chloride channel; D018118:Chloride Channels; C578714:SLC12A1 protein, human; D028021:Sodium-Potassium-Chloride Symporters; D064466:Solute Carrier Family 12, Member 1