| Journal: | Acta médica del Centro |
| Database: | PERIÓDICA |
| System number: | 000441878 |
| ISSN: | 2709-7927 |
| Authors: | Santana Hernández, Elayne Esther1 |
| Institutions: | 1Centro Provincial de Genética Médica, Holguín. Cuba |
| Year: | 2019 |
| Season: | Jul-Sep |
| Volumen: | 13 |
| Number: | 3 |
| Pages: | 422-427 |
| Country: | Cuba |
| Language: | Español |
| Document type: | Artículo |
| Approach: | Caso clínico |
| Spanish abstract | La hemocromatosis tipo 1 es una enfermedad genética con gran heterogeneidad clínica y genética, con patrón de herencia autosómico recesivo. Presentación del caso: se presenta un adolescente de 11 años, hijo de un matrimonio consanguíneo, que es atendido en el Centro Provincial de Genética de Holguín desde los dos años por falla de medro, infecciones respiratorias recurrentes y trastornos gastrointestinales con insuficiencia pancreática. Se encuentra en insuficiencia respiratoria y hepática con cirrosis, síntomas que se acompañan de un signo clínico: hiperpigmentación de la piel progresiva. Se le realizaron diferentes estudios moleculares para fibrosis quística, déficit de alfa-1 antitripsina y hemocromatosis. Se le diagnosticó, en forma heterocigótica, una mutación para déficit de alfa-1 antitripsina Pi M/Z y otra mutación para hemocromatosis tipo 1, H63D/. Se concluyó como hemocromatosis tipo 1. Conclusiones: se reafirma el valor del método clínico para definir casos complejos que, por su heterogeneidad, no se logran definir molecularmente con la tecnología que aún se emplea |
| English abstract | Hemochromatosis type 1 is a genetic disease with great clinical and genetic heterogeneity, and an autosomal recessive inheritance pattern. Case report: The case of an 11-year-old male adolescent, son of a consanguineous couple is reported. The patient had been treated at the Provincial Genetics Center in Holguín since he was two years old due to growth problems, recurrent respiratory infections and gastrointestinal disorders with pancreatic insufficiency. Respiratory and liver failures were found, as well as cirrhosis, symptoms that were accompanied by a clinical sign: progressive hyperpigmentation of the skin. Different molecular studies were conducted for cystic fibrosis, alpha-1 antitrypsin deficiency and hemochromatosis. He was diagnosed, heterozygously, a mutation for alpha-1 antitrypsin Pi M/Z deficiency and another mutation for hemochromatosis type 1, H63D/. It was concluded he presented hemochromatosis type 1. Conclusions: It was possible to confirm the value of the clinical method to define complex cases which, due to their heterogeneity, cannot be defined molecularly with the technology that is still |
| Disciplines: | Medicina |
| Keyword: | Metabolismo y nutrición, Gastroenterología, Trastornos metabólicos, Metabolismo de hierro, Hemocromatosis, Manifestaciones clínicas |
| Keyword: | Metabolism and nutrition, Gastroenterology, Metabolic disorders, Iron metabolism, Hemochromatosis, Clinical manifestations |
| Full text: | http://revactamedicacentro.sld.cu/index.php/amc/article/view/888/1307 |
