hrp0095p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Pain as an onset symptom in hereditary hypophosphatemic rickets with hypercalciuria, a case report.

Sala Elisa , Pitea Marco , Lanzafame Ruggero , Mora Stefano , Vezzoli Giuseppe , Barera Graziano

We report a case of hereditary hypophosphatemic rickets with hypercalciuria (Hereditary Hypophosphatemic Rickets with Hypercalciuria, HHRH) in a 13-year-old boy, referred for evaluation due to the onset of bilateral knee pain for about two years. Pain was intermittent and walking limiting and negatively affected quality of life. Negative family history of bone/joint pathologies and kidney stones. The parents are consanguineous (first cousins), have normal stature and no histor...

hrp0095p1-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Osteogenesis imperfecta: the effectiveness of bisphosphonates

Lanzafame Ruggero , Weber Giovanna , Mora Stefano , Pitea Marco , Sala Elisa , Barera Graziano

Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility and an increased risk of fractures. Intravenous bisphosphonates are the current gold standard for the treatment of OI: the aim of this therapy is an increase in Bone Mass Density (BMD) and a consequent reduction in pathological fracture rates. Currently, the only bisphosphonate approved in Italy for pediatric population is neridronate, infused in hospital once every four months. In San Raffa...

hrp0095p1-476 | Fat, Metabolism and Obesity | ESPE2022

Do Integrase Inhibitors Alter Body Composition in Young Patients Living with Hiv? The Experience with A Dolutegravir-Based Regimen

Mora Stefano , Genovese Camilla , Stracuzzi Marta , Sala Elisa , Lanzafame Ruggero , Pitea Marco , Giacomet Vania

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

hrp0095p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

An anomalous gait

Lanzafame Ruggero , Pitea Marco , Sala Elisa , Del Barba Paolo , Pia Guarneri Maria , Balzano Emanuela , Barera Graziano

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...