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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Kidney Int. 2017 Oct 12;93(1):204–213. doi: 10.1016/j.kint.2017.06.025

Table 3.

Clinical implications following detection of a monogenic cause of NL/NC.

Gene (Family number) Clinical diagnosis (Pre-screening) Genetic diagnosis (Post-screening) Practical implications
AGXT (B1468) (B1230) (B1646) NL, hyperoxaluria Primary hyperoxaluria I GC,
Consider pyridoxine trial, Potential enrollment in trials of new therapy for hyperoxaluria for future stone prevention
ATP6V1B1 (B1121) NC, RTA Distal renal tubular acidosis, deafness GC,
Hearing test, ESRD progression prevention
CLDN19 (A4283) NC, CKD Hypomagnesemia 5, renal with ocular disease GC,
Ophthalmology test
SLC34A1 (B1427) (B1602) NC Hypercalcemia, infantile, type 2 GC,
Phosphate supplementation
SLC9A3R1 (B969) NL Nephrolithiasis, osteoporosis, hypophosphatemia GC,
Screening for hypophosphatemia, Screening for abnormal bone density, Osteoporosis prevention
CTNS (B785) NC Cystinosis GC,
Cysteamine therapy, ESRD progression prevention

AGXT, Alanine-glyoxalate aminotransferase; ATP6V1B1, ATPase, H+ transporting, lysosomal, 56/58-KD, V1 subunit B, isoform 1; CLDN19, Claudin 19; CTNS, Cystinosis; GC, genetic counseling; NC, nephrocalcinosis; NL, nephrolithiasis, RTA, renal tubular acidosis; SLC34A1, solute carrier family 34; SLC9A3R1, solute carrier family 9, member 3, regulator 1.