ESPE Abstracts (2014) 82 P-D-3-3-837

GH Treatment in Dent's Disease: a Case Report

Simona Falcone, Elisa Guidoni, Giovanna Municchi & Maddalena Cioni


University of Siena, Siena, Italy


Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.

Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age for genetic evaluation due to the presence of dysmorphism. Pediatric and nephrologic evaluations led to the diagnosis of Dent disease 1, caused by an inactivating mutation in CLCN5 gene. The boy had also mild mental retardation and, in addition to the typical renal alterations of the syndrome, presented short stature (−3 SDS) and IGF1 levels. GH therapy was started at a chronological age of 11 years and 6 months. Bone age was 9 years. After 6 months of GH treatment (40 mcg/kg per day), height increased from 124 cm (−3.6 S.D.) to 128.5 cm (−3.3 S.D.), IGF1 levels increased from 57.8 ng/ml (88–770) to 150 ng/ml and creatinine clearance improved from 28 cc/ml (70–120) to 30 cc/ml. Our preliminary findings showed beneficial effects of GH treatment on growth velocity and renal function parameters. Further follow-up is needed in order to confirm these preliminary positive results.

Conclusion: GH treatment should be considered in children with Dent’s disease and short stature because it may have positive effects on longitudinal growth and renal function parameters. To the best of our knowledge, only three cases with Dent’s disease treated with GH have been reported in the literature, showing encouraging results. Unfortunately, the small sample size does not allow us to reach definitive conclusions on the beneficial effect of GH treatment.

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