We cannot conclude that MSK is ever a consequence of dRTA, but since MSK is a heterogeneous condition, as also stressed by Gambaro et al., for the first time, our study has highlighted the association of two rare renal diseases coupled with the genes responsible of dRTA, and it revealed a possible correlation between MSK and dRTA. Further studies are certainly needed to clarify not only the relationship between these two clinical conditions but also the phenotypic expression of dRTA, which is still not well known.

Reply-MSK and dRTA: a puzzling association

GIGLIO, SABRINA RITA;
2011-01-01

Abstract

We cannot conclude that MSK is ever a consequence of dRTA, but since MSK is a heterogeneous condition, as also stressed by Gambaro et al., for the first time, our study has highlighted the association of two rare renal diseases coupled with the genes responsible of dRTA, and it revealed a possible correlation between MSK and dRTA. Further studies are certainly needed to clarify not only the relationship between these two clinical conditions but also the phenotypic expression of dRTA, which is still not well known.
2011
dRTA
MSK
mutation
ATP6V1 gene
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I metadati presenti in IRIS UNICA sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono protetti da diritto d'autore, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/297629
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 0
  • OpenAlex ND
social impact