ABSTRACT
We describe a 65-year-old woman with eosinophilic pneumonitis induced by sulphasalazine. Laboratory findings revealed peripheral eosinophilia. The chest X-ray showed bilateral infiltrations, which disappeared after sulphasalazine was discontinued.
Subject(s)
Anti-Inflammatory Agents/adverse effects , Lung Diseases, Interstitial/chemically induced , Sulfasalazine/adverse effects , Aged , Female , Humans , Lung Diseases, Interstitial/diagnosisABSTRACT
BACKGROUND: Multiple endocrine neoplasia type 2A (MEN 2A) is a hereditary syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism. Familial MTC (FMTC) is characterized by MTC only. Both MEN 2A and FMTC are caused by germline mutations of the RET proto-oncogene. PURPOSE: To assess genotype/phenotype correlations, large families have to be examined periodically over a long period using an extensive screening program. PATIENTS AND METHODS: Since 1973, we screened a large family with hereditary C cell carcinoma for MTC, pheochromocytoma, and parathyroid disease by clinical tests and imaging methods. A germline codon Cys618 to Ser mutation in the RET proto-oncogene was recently identified in this family. The disease phenotype associated with this mutation was compared with that of Cys634 mutations in some other large MEN 2A families. RESULTS: The distinct course of disease in the family described here is similar to that in other FMTC families and MEN 2A families with a Cys618 mutation of the RET gene, but clearly different from that in families with a Cys634 mutation. The frequency of pheochromocytomas and parathyroid disease is clearly lower, whereas cure rates and life expectancy are higher. However, in families with a Cys618 mutation, pheochromocytoma and parathyroid disease do occur. CONCLUSION: In FMTC families with cysteine codon mutations of the RET proto-oncogene, screening for other endocrinopathies is mandatory, since these may not be MTC-only families. Therefore, we suggest that MEN 2A families should not be subclassified into MEN 2A and FMTC, but rather according to their specific mutation in the RET protein (i.e., for this family MEN 2A RET C618S).
Subject(s)
Carcinoma, Medullary/genetics , Cysteine/genetics , Drosophila Proteins , Germ-Line Mutation , Proto-Oncogene Proteins/genetics , Receptor Protein-Tyrosine Kinases/genetics , Thyroid Neoplasms/genetics , Adrenal Gland Neoplasms/genetics , Adult , Aged , Carcinoma, Medullary/pathology , DNA Probes , Female , Genotype , Humans , Hyperparathyroidism/genetics , Male , Middle Aged , Multiple Endocrine Neoplasia Type 2a/genetics , Pedigree , Phenotype , Pheochromocytoma/genetics , Proto-Oncogene Mas , Proto-Oncogene Proteins c-ret , Thyroid Neoplasms/pathologyABSTRACT
A 31-year-old male patient is reported who presented with neurological symptoms. He developed a urinary tract infection and an Addisonian crisis. This was due to adrenomyeloneuropathy, a form of X-linked adrenoleukodystrophy and characterized by accumulation of very-long-chain fatty acids in the adrenal cortex and nervous tissues.
