title: Multiple endocrine neoplasia type 2A: an unusual clinical presentation and association with renal dysplasia.
abstract: We report what we believe to be the first case of a patient with multiple endocrine neoplasia type 2A (MEN 2A) and renal dysplasia associated with an RET 634 mutation. The proband presented at the age of 29 with medullary thyroid carcinoma (MTC), bilateral pheochromocytomas, and primary hyperparathyroidism. Screening of family members identified the syndrome in his father. Both the proband and his father carry RET 634 germline mutation resulting in cysteine to arginine amino acid substitution. The proband had a left nephrectomy at the age of 10 years. Histologic examination of the resected kidney revealed severe dysplasia. His father had normal renal tract on ultrasonography. The proband's clinical presentation was unusual, and initially thought to be an atypical pneumonia. Surgical management after pharmacologic alpha- and beta-blockage consisted of bilateral adrenalectomy, total thyroidectomy, and subtotal parathyroidectomy as a single procedure.
authors.affiliation: Endocrine Unit, Freeman Hospital, Newcastle upon Tyne, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: McIntyre
authors.forename: Patricia
authors.initials: P
authors.lastname: Bond
authors.forename: Fiona
authors.initials: F
authors.lastname: Douglas
authors.forename: Tom
authors.initials: T
authors.lastname: Lennard
authors.forename: Robert
authors.initials: R
authors.lastname: Peaston
authors.forename: Petros
authors.initials: P
authors.lastname: Perros
mesh_terms: D000328:Adult; D029721:Drosophila Proteins; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila