| Autor: |
Hui‐Xuan Wu, Jun‐Ying Liu, De‐Wen Yan, Long Li, Xiang‐Hua Zhuang, Hai‐Yan Li, Zhi‐Guang Zhou, Hou‐De Zhou |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.1522 |
| Popis: |
Abstract Background Atypical clinical symptoms of juvenile hereditary hemochromatosis (JHH) often leads to misdiagnosis and underdiagnosis bringing ominous outcomes, even death. Methods The whole exome was sequenced and interpreted. A literature review assisted to analyze and verify the phenotype–genotype relationships. We revealed the entire process of diagnosis, treatments, and outcome of two diabetic onset of JHH families to provide new insights for genotype–phenotype relation with novel compound heterozygous mutations in the hepcidin antimicrobial peptide (HAMP, OMIM: 606464). Results Two probands were diagnosed and treated as type 1 diabetes initially because of specific symptoms and positive islet autoantibodies. Poor control of hyperglycemia and progressive symptoms occurred. Sequencing informed that the compound heterozygous and homozygous mutations c.166C>G and c.223C>T in HAMP caused type 1 diabetic‐onset JHH. The two patients accessed irregular phlebotomy treatments, and then, experienced poor prognosis. We summarized the process of overall clinical management of reported 26 cases comparing to our novel atypical diabetic onsets Juvenile Hereditary Hemochromatosis cases. Conclusion It was first reported that positive pancreatic islet autoantibodies diabetes onset of JHH resulted from loss‐of‐function mutations of HAMP, of which the atypical JHH should be differentially diagnosed with type 1 diabetes at the onset. Early administration of phlebotomy and vital organs protection and surveillance might be important for the treatment of atypical JHH. |
| Databáze: |
Directory of Open Access Journals |
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