#6286 NEPHROCALCINOSIS IN 3 GENERATIONS OF FEMALE PATIENTS DUE TO A PATHOGENIC MEN1 MUTATION

Abstract Background and Aims Multiple Endocrince Neoplasia type 1 (MEN1) syndrome, has an autosomal dominant transmission pattern, characterized by hyperparathyroidism, benign or malignant tumors in pancreas islets, pituitary tumors, thymic carcinomas, adrenal cortex adenomas angio-fibromas of the skin. We are describing 2 cases MEN1 with first cardinal manifestations within kidney. Method Medical records review, whole exome sequencing (WES), bioinformatics analysis Ingenuity Pathway Analysis, QIAGEN Results Patient 1. A 28 year old female presented horseshoe kidney, multiple pyelonephritis episodes, primary hypercalcemia, magnesiuria, reduced bone mass, nephrocalcinosis. Her mother grandmother suffered from hyperparathyroidism. WES demonstrated a 12-base deletion between intron 9 exon 10 gene (c.1351-3_1359delCAGGTGCGGCAG) apparent pathogenicity [1]. An accompanying alteration CLDN16 (c.324+13C>G, rs369250510) was also detected. Till now this is considered benign. 2. 48 female, hyperparathyroidism last 15 years (the 1), nephrocalcinosis since 1997 (calcium oxalate stones), preserved renal function, hypertelorism concurrent diplopia. In 2013, parathyroeidectomy resulted stabilization revealed same pathogenic as her daughter. research for epigastric pain cystic pancreatic increase serum gastrin chromogranin. adenoma manifested marginally increased prolactin. suffers Conclusion familial nephrocalcinosis/lithiasis/hyperparathyroidism genetic counselling screening defines individualized treatment may prevent extra disease manifestations.