RT info:eu-repo/semantics/article
T1 Study of the true clinical progression of autosomal dominant alport syndrome in a european population
A1 Rosado, Consolación
A1 Bueno Martínez, Elena
A1 Felipe, Carmen
A1 Valverde, Sebastián
A1 González Sarmiento, Rogelio
K1 Alport syndrome
K1 COL4A3
K1 COL4A4
K1 Autosomal dominant inheritance
K1 24 Ciencias de la Vida
AB Background/Aims:Autosomal  dominant  Alport  syndrome  represents  5%  of  all  Alport  syndrome  cases.  This  entity  presents  a  different  clinical  expression  from  the  recessive  inheritance pattern and the X chromosome-linked pattern, because it is mild and it shows a late onset, which in many cases even goes unnoticed. Methods:We carried out a descriptive observational  and  retrospective  clinical  study  on  19  patients  from  5  families  with  a  clinical  diagnosis of autosomal dominant Alport Syndrome, and we analyzed the expression of the symptoms in the different families, comparing the results with what has been described in the literature. Results:Renal involvement appeared at a young age, with a progression towards end-stage chronic kidney disease at a median age of 31 years (20.5-36.5). Hearing involvement also  appeared  in  early  stages,  at  a  median  age  of  28.5  years  (7.5-62.5).  Also,  we  observed  ocular lenticonus-like injuries, which until now have only been described in other inheritance patterns. Conclusions:Our  results  suggest  that  dominant  patterns  are  accompanied  by  a  severe  clinical  expression  that  can  be  superimposed  to  the  recessive  and  X  chromosome-linked patterns, contrary to what has been classically stated. The high phenotypic variability observed in the families lead to the fact that many cases go unnoticed and the severest cases are  erroneously  diagnosed  as  recessive,  which  means  that  the  real  prevalence  of  dominant  forms is probably higher than the current 5%.
PB Karger Publishers
SN 1420-4096
YR 2015
FD 2015
LK https://uvadoc.uva.es/handle/10324/47502
UL https://uvadoc.uva.es/handle/10324/47502
LA eng
NO Kidney and Blood Pressure Research, 2015, vol. 40, n. 4, p. 435-442
NO Producción Científica
DS UVaDOC
RD 17-jul-2024