Family history may be misleading in the diagnosis of Dent's disease.
The rare Dent's disease manifests with medullary nephrocalcinosis, nephrolithiasis, hypercalciuria, low molecular weight proteinuria and other tubular dysfunctions, rickets or osteomalacia, and renal failure, in various combinations. It is a recessive X-linked condition. Clinicians consider family history a fundamental pointer to its diagnosis, but this is not invariably the case as clearly pointed out by the two reported cases.
Anglani
F
F
Department of Medical and Surgical Sciences, Laboratory of Molecular Biology, University of Padova, Padova, Italy.
Bernich
P
P
Tosetto
E
E
Cara
M
M
Lupo
A
A
Nalesso
F
F
D'Angelo
A
A
Gambaro
G
G
D000293:Adolescent; D000328:Adult; D018118:Chloride Channels / Q000235:genetics; D003951:Diagnostic Errors; D005192:Family Health; D006801:Humans; D053565:Hypercalciuria / Q000175:diagnosis* / Q000235:genetics*; D007669:Kidney Calculi / Q000175:diagnosis* / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D010375:Pedigree; D018167:Receptors, Calcitriol / Q000235:genetics
C097503:CLC-5 chloride channel; D018118:Chloride Channels; D018167:Receptors, Calcitriol