Pheochromocytoma/paraganglioma is a neuroendocrine tumor of chromaffin and nonchromaffin cells of the autonomic nervous system, in most cases localized in the medullary layer of the adrenal gland. Its development is often associated with genetic predisposition. More than 30% of adult patients have genetically determined PCC/PG. In the last decade, many genes predisposing to the manifestation of PCC/PG have been found: RET, VHL, NF1, SDHB, SDHC, SDHD, SDHA, SDHAF2, TMEM127, MAH, KIF1BP, PHD2, EGLN1, FH, H-RAS, IDH, SLC25A11, MDH2. Mutation of the oncosuppressor genes TMEM127 and EGLN1, which regulate the level of factors induced by HIF hypoxia, is extremely rare in patients with PCC/PG, and has not been described at all in combination with pancreatic tumor. To date, data on the clinical manifestations of these gene mutations are limited. Accumulating clinical data on patients with identified genetic alterations is important for predicting the course of the disease, clarifying the malignant potential and stratifying the risk of developing comorbid pathology. We present the clinical case of a 62-year-old patient with PCC/PG and pancreatic tumor in whom a previously undescribed combination of TMEM127 c.99G > A (p.S33S) and EGLN1 c.515C > T (p.A172V) gene variants was found.
The number of transplantation and transplant survival rates increase steadily. Patients after solid organ transplantation re-ceive lifelong immunosuppressive therapy which may have adverse effects on carbohydrate and lipid metabolism. The most diabetogenic drugs are calcineurin inhibitors and corticosteroids. Posttransplant diabetes mellitus (PTDM) is hyperglycemia that meets American Diabetes Association and World Health Organization diabetes criteria for nontransplant patients and that was newly diagnosed after transplantation. PTDM may worsen both short-term and long-term transplantation outcomes so that the problem of timely diagnosis, proper treatment and prevention is critical. In early post-transplant period, transient hyperglycemia is found in the vast majority of patients; therefore, PTDM screening is carried out at least one month after transplantation. The gold standard test for PTDM diagnosis is oral glucose tolerance test. In the same time diagnostic value of hemoglobin A1C is limited. Lifestyle therapy and antidiabetic drugs are considered as possible preventive measures. Stress induced hyperglycemia management in solid organ recipients is the same with other surgical patients. Which organ was transplanted, patient characteristics and possible drug interactions with immunosuppressive therapy should be taken into account while managing PTDM. Blood pressure and lipid profile should be under control for comprehensive cardiovascu-lar risk reduction. It remains unclear which PTDM treatment and prevention strategy is the best and for better understanding interdisciplinary approach is needed.
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