Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2012
Familial carotid body tumors in patients with SDHD mutations: a case series.
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Kapoor Nitin, Pai Rekha, Ebenazer Andrew, Sen Indrani, Stephen Edwin, Agarwal Sunil, Paul M J, Rajaratnam Simon
Аннотация
OBJECTIVE: To describe a family with hereditary paraganglioma due to a disease-causing mutation in the SDHD gene.
METHODS: We present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.
RESULTS: Three siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.
CONCLUSION: This is the first report of the c.337-340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member.
METHODS: We present the clinical findings, diagnostic test results, treatment, and genetic test results in a family with hereditary paraganglioma.
RESULTS: Three siblings with bilateral carotid body tumors presented at different time points and with varied clinical presentations. While the proband, a 20-year-old man, was not hypertensive and had normal urinary metanephrine and normetanephrine levels, his sister and brother had a more severe clinical picture, with hypertension in both and elevated normetanephrine levels in his brother (his brother had pheochromocytoma and 2 intra-abdominal paragangliomas). Mean age at presentation was 24 years. A 4-base pair frameshift mutation, c.337-340delGACT, was detected in exon 4 of the SDHD gene in all 3 patients.
CONCLUSION: This is the first report of the c.337-340delGACT mutation being associated with hereditary paraganglioma; this report emphasizes the need to screen all at-risk first-degree relatives for the disease-causing SDHD mutation once it has been identified in an affected family member.