Uvádíme kazuistiku mladé ženy s familiární mutací pro MEN 1 syndrom, která byla indikována k léčbě pasireotidem. Maligní inzulinom s neobvyklou expresí somatostatinových receptorů se projevil metastázami v játrech.
We present a case report of a young woman with a familial mutation in the MEN 1 syndrome gene, who was indicated for treatment with pasireotide. Malignant insulinoma with unusual expression of somatostatin receptors was manifested by metastases in the liver.
- Keywords
- pasireotid,
- MeSH
- High-Intensity Focused Ultrasound Ablation MeSH
- Biopsy MeSH
- Hyperparathyroidism surgery drug therapy MeSH
- Hyperprolactinemia MeSH
- Insulinoma * surgery drug therapy MeSH
- Liver anatomy & histology MeSH
- Middle Aged MeSH
- Humans MeSH
- Neoplasm Metastasis MeSH
- Multiple Endocrine Neoplasia * diagnosis genetics classification MeSH
- Receptors, Somatostatin antagonists & inhibitors drug effects MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Background and Objectives: Insulinoma is a rare tumor of the Langerhans islets of the pancreas. It produces insulin and causes severe hypoglycemia with neuroglycopenic symptoms. The incidence is low, at about 1-2 per 1 million inhabitants per year. The diagnosis is based on the presence of Whipple's triad and the result of a fasting test. Surgery is the treatment of choice. Objectives: A retrospective observational study of patients operated on for insulinoma in our hospital focused on the diagnosis, the type of surgery, and complications. Materials and Methods: We retrospectively reviewed patients operated on due to insulinoma. There were 116 surgeries between 2000 and 2022. There were 79 females and 37 males in this group. A fasting test and a CT examination were performed on all the patients. Results: The average duration of the fasting test was 18 h. Insulinoma was found in the body and tail of the pancreas in more than half of the patients. Enucleation was the most frequent type of surgery. Complications that were Clavien Dindo grade III or more occurred in 18% of the patients. The most frequent complications were abscesses and pancreatic fistula. Five patients had malignant insulinoma. Conclusions: Surgery is the treatment of choice in the case of insulinomas. The enucleation of the tumor is a sufficient treatment for benign insulinomas, which are not in contact with the main pancreatic duct. Due to the low incidence of the condition, the centralization of patients is recommended.
- MeSH
- Hypoglycemia * etiology MeSH
- Insulinoma * diagnosis surgery MeSH
- Humans MeSH
- Pancreatic Neoplasms * diagnosis surgery MeSH
- Pancreas MeSH
- Retrospective Studies MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Observational Study MeSH
BACKGROUND: Congenital hyperinsulinism (CHI) is a neuroendocrine disease with focal or diffuse abnormalities in pancreas. While drug-resistant diffuse forms require near-total pancreatectomy or prolonged pharmacotherapy, focal CHI may be treated by targeted surgical resection. We evaluated the usefulness of 18F-DOPA PET/CT to identify the focal pancreatic form. SUBJECTS AND METHODS: Nineteen children (11 boys, 8 girls, aged 2-54 months) with clinical signs of neonatal CHI and positive genetic examinations were enrolled in the study. After i.v. administration of 18F-DOPA, early PET and late PET/CT acquisition covering one-bed length over thoraco-abdominal region were performed. Both acquisitions were done in dynamic mode to allow exclusion of frames with motion artefacts. Standardized uptake values were adjusted to bodyweight (SUVbw). The finding was considered as focal when the ratio of SUVbwmax between the suspicious region and the rest of pancreas was greater than 1.2. RESULTS: Focal forms were recorded in 10/19 children and 4 of them underwent surgical resection with complete recovery. Focal uptake was significantly higher than the uptake in the normal pancreatic tissue (p=0.0059). Focal and diffuse forms of CHI did not differ significantly in normal pancreatic tissue uptake. We found no advantage in the measurement of SUVbwmean ratio compared to SUVbwmax ratio (p=0.50). CONCLUSION: 18F-DOPA PET/CT is a useful tool for the localization of focal CHI and planning of surgical treatment.
- MeSH
- Surgery, Computer-Assisted * MeSH
- Diazoxide therapeutic use MeSH
- Dihydroxyphenylalanine analogs & derivatives pharmacokinetics MeSH
- Insulinoma complications surgery MeSH
- Infant MeSH
- Combined Modality Therapy MeSH
- Humans MeSH
- Pancreatic Neoplasms complications surgery MeSH
- Neuroendocrine Cells metabolism MeSH
- Octreotide therapeutic use MeSH
- Pancreas physiopathology MeSH
- Pancreatectomy methods MeSH
- Positron Emission Tomography Computed Tomography methods MeSH
- Positron-Emission Tomography MeSH
- Child, Preschool MeSH
- Radiopharmaceuticals * pharmacokinetics MeSH
- Fluorine Radioisotopes * pharmacokinetics MeSH
- Sulfonylurea Receptors genetics MeSH
- Retrospective Studies MeSH
- Sirolimus therapeutic use MeSH
- Tissue Distribution MeSH
- Congenital Hyperinsulinism diagnostic imaging drug therapy physiopathology surgery MeSH
- Check Tag
- Infant MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- MeSH
- Insulinoma * MeSH
- Endocrine Gland Neoplasms MeSH
- Dogs MeSH
- Animals MeSH
- Check Tag
- Dogs MeSH
- Animals MeSH
- Publication type
- Case Reports MeSH
Regulation of cellular iron homeostasis is crucial as both iron excess and deficiency cause hematological and neurodegenerative diseases. Here we show that mice lacking iron-regulatory protein 2 (Irp2), a regulator of cellular iron homeostasis, develop diabetes. Irp2 post-transcriptionally regulates the iron-uptake protein transferrin receptor 1 (TfR1) and the iron-storage protein ferritin, and dysregulation of these proteins due to Irp2 loss causes functional iron deficiency in β cells. This impairs Fe-S cluster biosynthesis, reducing the function of Cdkal1, an Fe-S cluster enzyme that catalyzes methylthiolation of t6A37 in tRNALysUUU to ms2t6A37. As a consequence, lysine codons in proinsulin are misread and proinsulin processing is impaired, reducing insulin content and secretion. Iron normalizes ms2t6A37 and proinsulin lysine incorporation, restoring insulin content and secretion in Irp2-/- β cells. These studies reveal a previously unidentified link between insulin processing and cellular iron deficiency that may have relevance to type 2 diabetes in humans.
- MeSH
- Insulin-Secreting Cells metabolism MeSH
- Homeostasis MeSH
- Insulin metabolism MeSH
- Insulinoma genetics metabolism MeSH
- Rats MeSH
- Mice, Inbred C57BL MeSH
- Mice, Knockout MeSH
- Cell Line, Tumor MeSH
- Pancreatic Neoplasms genetics metabolism MeSH
- Glucose Intolerance genetics MeSH
- Proinsulin genetics metabolism MeSH
- Iron-Sulfur Proteins metabolism MeSH
- Iron Regulatory Protein 2 genetics metabolism MeSH
- RNA, Transfer, Lys genetics metabolism MeSH
- Unfolded Protein Response genetics MeSH
- tRNA Methyltransferases genetics metabolism MeSH
- Iron metabolism MeSH
- Animals MeSH
- Check Tag
- Rats MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
Hypoglykemie se nejčastěji vyskytuje jako komplikace léčby diabetu, avšak setkat se s ní mohou i osoby bez tohoto onemocnění. Článek přináší stručnou diferenciální diagnostiku hypoglykemických stavů u osob bez diabetu.
Hypoglycemia is a rather frequent complication of diabetes treatment, however it can occur also in non-diabetic patients. The article presents a brief differential diagnosis of hypoglycemia in non-diabetic patients.
Autoři prezentují případ pacientky přivezené původně pro neurologickou symptomatiku s podezřením na cévní mozkovou příhodu do iktového centra, kde byla následně laboratorně zjištěna těžká hypoglykemie. Po dalších vyšetřeních byl diagnostikován neuroendokrinní tumor (NET) na přechodu hlavy a těla pankreatu, který byl následně vyřešen operačně, a to enukleací tumoru. Jsou popsány základní informace o NET, zejména těch pankreatických, vyšetřovací metody a diagnostická a terapeutická taktika u inzulinomu.
The authors present the case of a patient who originally presented to a stroke center with neurological symptoms and was suspected of having a stroke, but in whom severe hypoglycemia was subsequently detected. After further examinations, a neuroendocrine tumor (NET) was diagnosed at the transition of the pancreatic head and body, which was subsequently surgically resolved by enucleation. Basic information about NETs, especially pancreatic tumors, examination methods, and diagnostic and therapeutic approaches for insulinoma, are described.
- MeSH
- Cholangiopancreatography, Endoscopic Retrograde MeSH
- Diagnosis, Differential MeSH
- Hypoglycemia MeSH
- Insulinoma * diagnostic imaging surgery therapy MeSH
- Laparoscopy MeSH
- Humans MeSH
- Neuroendocrine Tumors diagnosis classification MeSH
- Pancreas anatomy & histology diagnostic imaging pathology MeSH
- Aged MeSH
- Stents MeSH
- Check Tag
- Humans MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
- Keywords
- resekce pankreatu,
- MeSH
- Hypoglycemia diagnosis etiology MeSH
- Insulinoma diagnosis therapy MeSH
- Humans MeSH
- Pancreatic Neoplasms * diagnosis therapy MeSH
- Neuroendocrine Tumors diagnosis therapy MeSH
- Pancreas surgery MeSH
- Pancreatectomy methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
