INT140116
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Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs. | |||||||||||||||
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Practical guidelines for clinicians
especially children of fathers with a SDHD mutation have to be investigated periodically early diagnosis is indicated, because morbidity is related to the diameter of the tumour if possible, resection of a paraganglioma has to be performed at an early stage preferably, the surgical procedure should be performed by surgeons with experience in the head and neck region and in techniques of vascular reconstruction DNA analysis of children from families with a known SDH mutation has to be performed before the age of 5 years
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Practical guidelines for clinicians
especially children of fathers with a SDHD mutation have to be investigated periodically early diagnosis is indicated, because morbidity is related to the diameter of the tumour if possible, resection of a paraganglioma has to be performed at an early stage preferably, the surgical procedure should be performed by surgeons with experience in the head and neck region and in techniques of vascular reconstruction DNA analysis of children from families with a known SDH mutation has to be performed before the age of 5 years
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General Comments
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