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ISSN 1995-9494 (Electronic)
Revista del Hospital Clínico Quirúrgico "Arnaldo Milián Castro"

2019, Number 3

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Acta Med Cent 2019; 13 (3)

Hemocromatosis tipo 1. Informe de caso

Santana HEE

Language: Spanish
References: 10
Page: 422-427
PDF size: 183.05 Kb.


ABSTRACT

Introduction: 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.


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