Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association
Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with
Hirschsprung disease (HSCR). Based on the common genetic background of enteric
nervous system and kidney development, the reported association of CAKUT and HSCR
seems underestimated. Therefore, we designed a prospective study aimed at determining
the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived
neurotrophic factor (GDNF), and GDNF family receptor α1 (GFRα1) mutations or haplotypes …
Hirschsprung disease (HSCR). Based on the common genetic background of enteric
nervous system and kidney development, the reported association of CAKUT and HSCR
seems underestimated. Therefore, we designed a prospective study aimed at determining
the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived
neurotrophic factor (GDNF), and GDNF family receptor α1 (GFRα1) mutations or haplotypes …