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Table 2 Patients with Dent-2 disease with the same missense mutation in exon 11 (p.Arg318Cys) as our patient

From: Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease

  Patient 1  [3]a Patient 2  [3]a Patient 3  [9] Patient 4 [4]b Patient 5 [4]b Patient 6 [12] Our patient
Age at presentation - - 7 - - - 2
Age at diagnosis (years) 22 27 15 12 17 7 6
CrCl (cc/min/1.73 m2) - - 90 107 77 - 140
Hypercalciuria (>0.24) yes yes no yes yes - no
LMWP yes yes yes yes yes yes yes
Low TRP (%) - - - no no - no
Renal biopsy - - minor glomerular abnormalities - - - minimal change disease
Elevated CPK/LDH no/no no/no yes/no yes/yes yes/yes - yes/yes
glycosuria no no no no no - no
aminoaciduria - - no no no - no
Renal tubular acidosis - - no no no - no
Nephrocalcinosis/stones no/no no/no no/no yes/no yes/no - no/no
Ocular involvement no no no no no - no
Cognitive function mild mental retardation mild mental retardation normal normal normal normal normal
Growth - - normal normal short stature - normal
  1. CrCl creatinine clearance, LMWP low molecular weight proteinuria, TRP tubular reabsorption of phosphate, CPK creatine phosphate kinase, LDH lactate dehydrogenase
  2. a,bbrothers