Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152169 (renal colic)
 811 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and laboratory data, and histologic, electron microscopic and immunocytochemical findings of a carcinoid tumor of the lung associated with parathyroid hyperplasia and persistent hypercalcemia are described. The carcinoid tumor consists of uniform cuboidal cells with regular round vesicular nuclei and eosinophilic granular cytoplasm. The tumor cells were chromogranin and neuron-specific enolase positive. The CAT scan of the abdomen revealed an adrenal mass, 3 cm in diameter, and an enlarged body in the pancreas. Our patient is still suffering from hypercalcemia and renal colic, despite repeated parathyroid gland removal, and enucleation of the lung mass. Recent parathyroid scintigraphy with Tc revealed an enlarged parathyroid gland. The thoracic CAT scan is normal. We believe that our patient is suffering from multiple endocrine neoplasia type-1 with persistent hypercalcemia due to hyperparathyroidism.
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PMID:Carcinoid tumor of the lung and type-1 multiple endocrine neoplasia associated with persistent hypercalcemia: a case report. 781 97

We report on a 27-year-old male patient presenting with renal colic secondary to hyperparathyroidism. Further investigations confirmed a diagnosis of type 1 multiple endocrine neoplasia and revealed a 2.0 cm pancreatic neuroendocrine tumour as well as a pituitary macroadenoma with significantly elevated prolactin levels. The patient underwent three-gland parathyroidectomy, a left pancreatectomy, and received dopamine agonist treatment. Genetic testing revealed a novel germline heterozygote missense mutation in the MEN1 gene (p.Gly42Val) which affects the Smad3 binding domain of the MENIN protein. The same mutation was found in the patient's mother, who on further testing was found to have hyperparathyroidism, a pituitary microadenoma and bilateral adrenal hyperplasia without pituitary or adrenal hormone excess. This case report raises the importance of genetic testing for MEN1 syndrome in a patient even when family history appears to be negative. Following genetic counselling, genetic cascade screening should be considered in family members to identify further gene carriers.
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PMID:Novel Germline p.Gly42Val MEN1 Mutation in a Family with Multiple Endocrine Neoplasia Type 1 - Excellent Response of Prolactinoma to Cabergoline. 2906 90