BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.Th...BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.The patient underwent selective laparoscopic resections of the pheochromocytomas,and the anesthetic management during surgery was complex and challenging.CASE SUMMARY A 22-year-old man presented to our hospital to seek medical advice for infertility without any other complaints.The results of computed tomography and catecholamine levels in blood and urine demonstrated adrenal gland masses which were diagnosed as pheochromocytomas.Further examination confirmed that the patient also had VHL syndrome.After thorough preparation,the patient underwent selective laparoscopic resection of the pheochromocytomas and was discharged 10 d after surgery.We describe the process of perioperative anesthesia management in this patient undergoing pheochromocytoma resection.CONCLUSION This case summaries specific clinical traits and considerations in perioperative anesthesia management for VHL syndrome patients undergoing bilateral pheochromocytoma resection.展开更多
Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar population...Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common(40.9%, 63/154), followed by large/complete deletions(32.5%, 50/154) and nonsense mutations(11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients(40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients(32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.展开更多
Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleedin...Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleeding, but is associated with certain diseases or abnormal conditions or drugs. Although AvWS is being stated as a rare disease, it has gained more and more attention during the past years. Not because of the severity of the disease, but it is more common than we thought and most patients don' t have a proper diagnosis.展开更多
Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tum...Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tumors or epididymis tumors under the mutation or deletion at the tumor suppressor gene. Here we report a 42-year-old woman who had been operated for cerebellar hemangioblastoma and retinal angioma, and presented with recurrent, mild abdominal pain. In radiological imaging studies, multiple pancreatic cysts without nodulation were determined. Because of the mild abdominal pain and uncertain malignant potential of the cysts, total pancreatectomy was performed. She was discharged at the fifteenth day after the surgery without any problem. The patient has been followed for 62 months without any problem, and her diabetes mellitus is being controlled by medication.展开更多
Von HippeI-Lindau syndrome （VHL） is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors...Von HippeI-Lindau syndrome （VHL） is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors have also been described, mostly in the pancreas and rarely in the biliary trees. We report the second case of bile duct carcinoid in a 31-year-old VHL woman. She underwent right adrenalectomy for a pheochromocytoma in the past. She also had a positive family history of phenotypic expression of VHL syndrome. The patient presented with biliary colic. Endoscopic retrograde cholangio-pancreatography showed intraluminal bile duct mass. Surgical exploration identified a beige nodular lesion that was a carcinoid tumor on histology. This new association should be clarified by further genetic investigations.展开更多
文摘BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.The patient underwent selective laparoscopic resections of the pheochromocytomas,and the anesthetic management during surgery was complex and challenging.CASE SUMMARY A 22-year-old man presented to our hospital to seek medical advice for infertility without any other complaints.The results of computed tomography and catecholamine levels in blood and urine demonstrated adrenal gland masses which were diagnosed as pheochromocytomas.Further examination confirmed that the patient also had VHL syndrome.After thorough preparation,the patient underwent selective laparoscopic resection of the pheochromocytomas and was discharged 10 d after surgery.We describe the process of perioperative anesthesia management in this patient undergoing pheochromocytoma resection.CONCLUSION This case summaries specific clinical traits and considerations in perioperative anesthesia management for VHL syndrome patients undergoing bilateral pheochromocytoma resection.
文摘Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common(40.9%, 63/154), followed by large/complete deletions(32.5%, 50/154) and nonsense mutations(11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients(40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients(32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.
文摘Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleeding, but is associated with certain diseases or abnormal conditions or drugs. Although AvWS is being stated as a rare disease, it has gained more and more attention during the past years. Not because of the severity of the disease, but it is more common than we thought and most patients don' t have a proper diagnosis.
文摘Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tumors or epididymis tumors under the mutation or deletion at the tumor suppressor gene. Here we report a 42-year-old woman who had been operated for cerebellar hemangioblastoma and retinal angioma, and presented with recurrent, mild abdominal pain. In radiological imaging studies, multiple pancreatic cysts without nodulation were determined. Because of the mild abdominal pain and uncertain malignant potential of the cysts, total pancreatectomy was performed. She was discharged at the fifteenth day after the surgery without any problem. The patient has been followed for 62 months without any problem, and her diabetes mellitus is being controlled by medication.
文摘Von HippeI-Lindau syndrome （VHL） is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors have also been described, mostly in the pancreas and rarely in the biliary trees. We report the second case of bile duct carcinoid in a 31-year-old VHL woman. She underwent right adrenalectomy for a pheochromocytoma in the past. She also had a positive family history of phenotypic expression of VHL syndrome. The patient presented with biliary colic. Endoscopic retrograde cholangio-pancreatography showed intraluminal bile duct mass. Surgical exploration identified a beige nodular lesion that was a carcinoid tumor on histology. This new association should be clarified by further genetic investigations.
