Clinical features of patients with documented mutations in CLCN5 (Dent-1 disease)

Clinical features of patients with documented mutations in CLCN5 (Dent-1 disease)

Abnormality	Prevalence (percent)
LMW proteinuria	100
Hypercalciuria*	92 to 95
Hematuria	94
Nephrocalcinosis	42 to 74
Nephrolithiasis	32 to 49
Renal failure	64
Rickets or osteomalacia	19 to 30
Concentrating defect	81
Amino aciduria	50 to 76
Glycosuria	45 to 54
Hypophosphatemia	50
Hypokalemia	35 to 44
Acidification defect	17
Incomplete Fanconi syndrome	73
Complete Fanconi syndrome	11
Renal hypouricemia	63
Failure to thrive	30

LMW: low molecular weight.
* Excludes patients with reduced kidney function.

Adapted from:

Scheinman SJ. Nephrolithiasis. Semin Nephrol 1999; 19:381.
Blanchard A, Curis E, Guyon-Roger T, et al. Observations of a large Dent disease cohort. Kidney Int 2016; 90:430.

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