Evaluación de la afectación ósea en pacientes con enfermedades raras

Abstract

In this thesis, we have studied two uncommon diseases with a high prevalence of bone disease and a high impact in the morbidity of these patients; Guahcer’s disease and kidney transplant. _x000D_ We have performed an exhaustive study on bone health, with diagnostic techniques that are different from the ones usually applied, since these ones are unable to assess bone resistance in patients with kidney transplant or Gaucher’s disease, and their consequent fracture risk._x000D_ _x000D_ Bone Assessment in Patients with Type 1 Gaucher’s Disease using impact microindentation_x000D_ In this series of patients, we have found that GD1 patients have a significantly lower BMSi compared to matched controls. As far as we know this is the first description in the literature of in vivo bone tissue biomechanical properties measurement with impact microindentation in this group of patients. These results are important due to the high prevalence of bone disease in GD1, who are often asymptomatic, although bone disease is a prominent cause of morbidity. After adjusting by age, gender, weight, height and lumbar BMD, persisted a significant bone tissue mechanical characteristics deterioration, compared to matched controls._x000D_ _x000D_ Bone density, microarchitecture and material strength in chronic kidney disease patients at the time of kidney transplantation _x000D_ We have performed a cross-sectional study in a cohort of a ESRD patients undergoing KT, in whom we assessed bone and mineral status using three different techniques that measure bone density, trabecular microarchitecture and tissue-level quality. We describe an important deterioration in all these markers of bone strength providing a comprehensive picture of the skeletal impact of ESRD. Despite all this, calcium/phosphate and iPTH levels were relatively controlled, stressing the value of pre-operative specific bone health assessments (DXA or similar) for the identification of patients at high risk of post-transplantation fractures.

Date of Award	4 Jul 2017
Original language	Undefined/Unknown
Awarding Institution	Hospital del Mar
Supervisor	Adolfo Díez Pérez (Director)