[Patterns of rare congenital diseases in patients admitted to a regional hospital]

To describe the pattern of patients admitted due to rare diseases corresponding to congenital anomalies in a regional hospital.

Retrospective transversal study. We considered hospital discharges for the years 2009-2012 with principal diagnosis between codes CIE 9R MC 740-759. The source of information was the Basic Minimum Data Set. Socio-demographic and clinical variables were analyzed.

One point six percent (1.6%) of the population was admitted to hospital due to rare congenital diseases. Fifty-eight point five percent (58.5%) were male, with average age 21.4 ± 21.5 years. The major diagnostic categories were: diseases of the nervous system (86.9%), circulatory systems diseases (51.7%) and musculoskeletal system diseases (50.3%). Eighteen percent (18%) of hospital admissions corresponded to patient readmissions. The service with the greatest number of episodes was Pediatric Surgery, 29%, followed by Neurosurgery, 20%.

The pattern of rare congenital disease in the "Virgen de Nieves" University Hospital corresponds to a young patient, with a disease belonging to the diseases of the nervous system group of the major diagnostic categories, treated surgically, and with a low percentage of readmissions.