SDHD génmutációhoz társult extraadrenalis phaeochromocytoma

Translated title of the contribution: Extraadrenal pheochromocytoma associated to SDHD gene mutation

Nikolett Lendvai, Ildikó Szabó, Henriett Butz, Gabriella Beko, János Horányi, Mária Tarjányi, Sándor Alföldi, István Szabó, Károly Rácz, Attila Patócs

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Abstract

Hereditary paraganglioma/pheochromocytoma syndrome is an autosomal dominantly inherited disease caused by germline mutation of the genes encoding subunits of the mitochondrial succinate dehydrogenase (SDH) enzyme involved in the mitochondrial respiratory chain. The pathogenetic role ofSDHgene mutations was first recognized in 2000. Authors present the history of a patient with extraadrenal pheochromocytoma who represents in Hungary the first genetically confirmed case of hereditary paraganglioma/pheochromocytoma syndrome due to disease-causing mutation of theSDHDgene. Also, the authors review the progress of our knowledge about this syndrome.Case report:A 33 years-old man was observed with hypertension, increased perspiration and palpitation. Laboratory analysis showed increased urinary catecholamine metabolite excretion, abdominal radiologic imaging revealed a retroperitoneal tumor with 3.5 cm extension located close to the abdominal aorta. After tumor resection the clinical symptoms disappeared. Histological examination of the tumor prowed extraadrenal pheochromocytoma. Although family history was unremarkable, the young age of the patient raised the possibility of a hereditary syndrome. Mutation screening using peripheral blood DNA samples of the patient indicated the presence of c.148-149 insA frameshift mutation of theSDHD gene. Genetic analysis of family members revealed the presence of the same mutation in his asymptomatic father while the mutation was not present in his mother and brother.Conclusion:The presented patient represents the first case with hereditary paraganglioma/pheochromocytoma syndrome from Hungary, in whom genetic analysis identified a disease-causing mutation of theSDHDgene. Pedigree analysis was compatible with genomic imprinting which has been demonstrated in many families with this syndrome.

Original languageHungarian
Pages (from-to)645-649
Number of pages5
JournalOrvosi hetilap
Volume150
Issue number14
DOIs
Publication statusPublished - Apr 1 2009

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Lendvai, N., Szabó, I., Butz, H., Beko, G., Horányi, J., Tarjányi, M., Alföldi, S., Szabó, I., Rácz, K., & Patócs, A. (2009). SDHD génmutációhoz társult extraadrenalis phaeochromocytoma. Orvosi hetilap, 150(14), 645-649. https://doi.org/10.1556/OH.2009.28587