Dent-2 Disease: A Mild Variant of Lowe Syndrome

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)

“…1,8 Although nephrocalcinosis and hypercalciuria are characteristic findings in Dent disease, only low-molecular-weight proteinuria is uniformly present in all patients. 9,10 Additional features observed in patients are aminoaciduria (in 40-50%), phosphate (in 20-25%) and potassium wasting (in 5-15%), glycosuria (in 10-20%), renal tubular acidosis (in 3-5%) and renal failure in adulthood. 9 Manifestations of Dent disease are highly variable, even within the same family, and there is no genotypephenotype correlation.…”

“…9,10 Additional features observed in patients are aminoaciduria (in 40-50%), phosphate (in 20-25%) and potassium wasting (in 5-15%), glycosuria (in 10-20%), renal tubular acidosis (in 3-5%) and renal failure in adulthood. 9 Manifestations of Dent disease are highly variable, even within the same family, and there is no genotypephenotype correlation. 10 Dent-2 disease is caused by mutations in OCRL, the gene previously identified as the cause of the oculo-cerebro-renal syndrome (Lowe syndrome, OMIM 309000).…”

“…11,12 Patients show a renal phenotype comparable to Dent-1 disease, except for a lower prevalence of nephrocalcinosis. 9 Dent-2 disease may present with additional (mild) extra-renal features of the Lowe syndrome spectrum, for example, peripheral cataracts, mild cognitive and/or mental impairment, stunted growth and elevated serum CK/LDH levels. 9 Prenatal diagnosis is feasible if the familial mutation is known but is of no clinical benefit.…”

Clinical utility gene card for: Lowe syndrome

“…Typically, patients have mildly elevated creatine kinase and/or lactate dehydrogenase levels. 10 Intellectual disability is a cardinal finding with only 10% of patients having normal intelligence. Behavioral abnormalities (stereotypic behavior, self-injury, tantrums, aggression/irritability, repetitive non-purposeful movements) are common, too.…”

“…Impaired reabsorption of low-molecular-weight proteins is present in all patients, while disturbances in other tubular functions are variable: 10,11 Generalized aminoaciduria in 80%, phosphate and potassium wasting (in 40 and 20%, respectively), proximal renal tubular acidosis in 35% and slowly progressive renal failure leading to end-stage renal failure in the second and third decade. Unlike other tubular functions, glucose reabsorption is less affected.…”