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.
- Klíčová slova
- pasireotid,
- MeSH
- ablace intenzivním ultrazvukovým paprskem MeSH
- biopsie MeSH
- hyperparatyreóza chirurgie farmakoterapie MeSH
- hyperprolaktinemie MeSH
- inzulinom * chirurgie farmakoterapie MeSH
- játra anatomie a histologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metastázy nádorů MeSH
- mnohočetné endokrinní neoplazie * diagnóza genetika klasifikace MeSH
- receptory somatostatinu antagonisté a inhibitory účinky léků MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky 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.
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
- chirurgie s pomocí počítače * MeSH
- diazoxid terapeutické užití MeSH
- dihydroxyfenylalanin analogy a deriváty farmakokinetika MeSH
- inzulinom komplikace chirurgie MeSH
- kojenec MeSH
- kombinovaná terapie MeSH
- lidé MeSH
- nádory slinivky břišní komplikace chirurgie MeSH
- neuroendokrinní buňky metabolismus MeSH
- oktreotid terapeutické užití MeSH
- pankreas patofyziologie MeSH
- pankreatektomie metody MeSH
- PET/CT metody MeSH
- pozitronová emisní tomografie MeSH
- předškolní dítě MeSH
- radiofarmaka * farmakokinetika MeSH
- radioizotopy fluoru * farmakokinetika MeSH
- receptory sulfonylurey genetika MeSH
- retrospektivní studie MeSH
- sirolimus terapeutické užití MeSH
- tkáňová distribuce MeSH
- vrozený hyperinzulinismus diagnostické zobrazování farmakoterapie patofyziologie chirurgie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- inzulinom * MeSH
- nádory endokrinních žláz MeSH
- psi MeSH
- zvířata MeSH
- Check Tag
- psi MeSH
- zvířata MeSH
- Publikační typ
- kazuistiky 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
- beta-buňky metabolismus MeSH
- homeostáza MeSH
- inzulin metabolismus MeSH
- inzulinom genetika metabolismus MeSH
- krysa rodu rattus MeSH
- myši inbrední C57BL MeSH
- myši knockoutované MeSH
- nádorové buněčné linie MeSH
- nádory slinivky břišní genetika metabolismus MeSH
- porucha glukózové tolerance genetika MeSH
- proinsulin genetika metabolismus MeSH
- proteiny obsahující železo a síru metabolismus MeSH
- regulační protein železa 2 genetika metabolismus MeSH
- RNA transferová Lys genetika metabolismus MeSH
- signální dráha UPR genetika MeSH
- tRNA-methyltransferasy genetika metabolismus MeSH
- železo metabolismus MeSH
- zvířata MeSH
- Check Tag
- krysa rodu rattus MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem 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
- cholangiopankreatografie endoskopická retrográdní MeSH
- diferenciální diagnóza MeSH
- hypoglykemie MeSH
- inzulinom * diagnostické zobrazování chirurgie terapie MeSH
- laparoskopie MeSH
- lidé MeSH
- neuroendokrinní nádory diagnóza klasifikace MeSH
- pankreas anatomie a histologie diagnostické zobrazování patologie MeSH
- senioři MeSH
- stenty MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
- Klíčová slova
- resekce pankreatu,
- MeSH
- hypoglykemie diagnóza etiologie MeSH
- inzulinom diagnóza terapie MeSH
- lidé MeSH
- nádory slinivky břišní * diagnóza terapie MeSH
- neuroendokrinní nádory diagnóza terapie MeSH
- pankreas chirurgie MeSH
- pankreatektomie metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
