Severe growth retardation in Dent disease: a case report of a novel OCRL variant.
Okan Akacı, Erdal Eren
✦ AI-curated · Sources linked
Case in brief
A 12-year-old boy with marked short stature and poor weight gain had low-molecular-weight proteinuria, haematuria, hypercalciuria and bilateral nephrocalcinosis, with normal renal function and no relevant family history. Genetic testing identified a hemizygous OCRL missense variant, c.899 C>A (p.Ala300Asp), not previously reported in the literature. Ocular and neurological examinations were normal, supporting Dent disease type 2 rather than Lowe syndrome. Hydrochlorothiazide was stopped after hypokalaemia; growth hormone therapy was started for severe growth retardation.
What made this case unusual
Severe growth retardation was prominent in a boy with Dent disease type 2, alongside a previously unreported OCRL variant. The authors note that, without functional validation, the variant’s significance and whether growth retardation is a complication of DD-2 remain uncertain.
Diagnostic / clinical pearl
In a boy with growth failure, low-molecular-weight proteinuria, hypercalciuria and nephrocalcinosis should prompt consideration of Dent disease; ocular and neurological findings can help distinguish OCRL-related DD-2 from Lowe syndrome.