RT info:eu-repo/semantics/bachelorThesis
T1 ¿Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis o enfermedad de Dent? : de la sospecha clínica a la confirmación genética
A1 Cruz Mínguez, Raquel de la
K1 Enfermedad de Dent, Hipomagnesemia Familiar con Hipercalciuria y Nefrocalcinosis.
AB Dent's disease and Familial Hypomagnesaemia with Hypercalciuria andNephrocalcinosis (FHHN) are inherited diseases with hypercalciuria, nephrocalcinosis andrenal failure, whose defects are located in the proximal tubule and thick ascending limb ofHenle’s loop, respectively.In this work, existing information on Dent's disease and FHHN is compiled to justifythe need to analyze the causal genes of Dent's disease when genetic confirmation is notachieved in cases where there is clinical suspicion of FHHN. Due to the great geneticheterogeneity, the lack of genotype-phenotype correlation, as well as the overlap of some ofthe clinical symptoms and biochemical manifestations, the diagnosis of these tubulopathiesis complicated; for this reason, the analysis of the CLCN5 and OCRL genes could be ofinterest for the diagnosis of Dent's disease in these cases, since they would be atypicalmanifestations of this pathology not described so far.
YR 2020
FD 2020
LK http://riull.ull.es/xmlui/handle/915/20481
UL http://riull.ull.es/xmlui/handle/915/20481
LA es
DS Repositorio institucional de la Universidad de La Laguna
RD 28-abr-2024