ABSTRACT
Objective To discuss the clinical characteristics of yon Hippel-Lindau (VHL)syndrome and the significance of genetic test for this disease.Methods Patients with VHL disease from 3 different families were reviewed from August 1985 to October 2017.The study was including clinical family survey and VHL-gene test on phylogenetic level.Totally 21 family members from 3 families were investigated,consisting of 14 males and 7 females with average age of 48.6 (5-70)years when analyzed.There were 8 patients with VHL disease comprising 5 males and 3 females with average onset age of 31.5 (9-67) years.Results The proband of pedigree one (VHL-Ⅱ C) was diagnosed as pheochromocytoma (PHEO) of right adrenal gland at 18 years old and underwent adrenalectomy,and her son was diagnosed with PHEO of bilateral adrenal glands with diagnostic age of 9 years old and received bilateral adrenalectomy sequentially.Her niece was diagnosed as PHEO of bilateral adrenal glands at 28 years old and received bilateral adrenal-sparing surgery simultaneously.Genetic analysis revealed a heterozygous mutation located at the third exon of the VHL gene (c.482G ＞ A).The proband of pedigree two (VHL-Ⅱ B) was diagnosed as right PHEO,bilateral multiple renal clear cell carcinoma (RCC),multiple pancreatic cysts and bilateral epididymal cystadenoma,and he received right adrenalectomy,right partial nephrectomy at 25 years old and delayed eystadenoma excision.His younger brother was also diagnosed as bilateral,pancreatic multiple cysts and bilateral epididymal nodules at 27 years old,and underwent right radical nephrectomy.Genetic analysis revealed a heterozygous mutation located at the first exon of the VHL gene (c.233A ＞ G).The proband of pedigree three (VHL-Ⅱ B) was diagnosed with central nerve system hemangioblastomas (CNS-HB) at 35 years old and received external beam radiotherapy.His elder sister was diagnosed as CNS-HB at 43 years old and received surgery.His father was diagnosed as right PHEO,bilateral RCC,bilateral multiple renal and pancreatic cysts and pancreatic neuroendocrine tumors at 67 years old.He received right adrenalectomy and partial nephrectomy.Genetic analysis showed a heterozygous mutation located at the third exon of the VHL gene(c.500G ＞ A).In addition,two cases (F2-Ⅲ 1 and F3-ⅣV1) were found to be asymptomatic VHL gene carriers by genetic screening.8 patients were followed up for an average of 9.8 (2-32) years.The symptoms were stable and no local recurrence or distant metastasis was found after operation.In this study,no CNS-HB was found in patients within family 1 and family 2,and RCC in 3 patients within family 2 and family 3 were low grade.Conclusions The clinical manifestations of VHL disease are diverse.RCC and CNS-HB are not present in all patients with the disease.PHEO is the only manifestation in patients with VHL-ⅡC.It is necessary to inform the members of VHL syndrome family for genetic test.Genetic test combined with clinical screening can facilitate differential diagnosis for VHL syndrome and other hereditary urological diseases.
ABSTRACT
Objective@#To investigate the necessity of artificial kidney seeper which made through inserting a ureteral tube in the ureter to the ultrasonography-guided percutaneous nephrolithotomy (PCNL).@*Methods@#This was a randomized prospective study. Patients who conformed to the inclusion and exclusion criteria were enrolled at Department of Urology, Frist Affiliated Hospital of Wenzhou Medical University from January 2016 to May 2017. Totally 291 patients were included in the study. Patients were randomly assigned into two groups (artificial kidney seeper group and non-artificial kidney seeper group) in different kidney seeper level (5 to <10 mm, 10 to 20 mm) respectively. The artificial kidney seeper group was inserted by a ureteral cathedral, then were underwent the ultrasonography-guided PCNL in prone position. The non-artificial kidney seeper group were underwent the ultrasonography-guided PCNL in prone position directly. The t test, χ2 test, repeated measure analysis was used to data measurement, respectively.@*Results@#Four patients who diagnosed pyonephrosis were excluded. On the 5 to <10 mm level, fever rate (14.6% vs. 4.8%, χ2=5.07, P=0.03), operation time ((65.7±9.9)min vs. (50.3±7.4)min, t=11.47, P=0.00), cost ((18 327±903) yuan vs. (14 583±784) yuan, t=24.50, P=0.00) about artificial kidney seeper group and non-artificial kidney seeper group had statistical differences. And on the 10 to 20 mm level, fever rate (14.5% vs. 3.39%, χ2=4.53, P=0.03), operation time ((66.0±9.9)min vs. (52.4±8.9)min, t=8.30, P=0.00), cost ((16 548±537) yuan vs. (13 102±629) yuan, t=32.10, P=0.00) about artificial kidney seeper group and non-artificial kidney seeper group had statistical differences. And there were no statistical differences in the success rate of puncturing, the failures of the treatment to the stone pieces falling into the ureter and clearance rate of the stone and so on. In this study, 2 cases recovered after received transfusion and digital subtraction angiography artery embolization treatments; D-J tube was indwelled into 4 cases guiding by super smooth thread; 4 cases were finished the surgeries with the help of ureteroscopy, because the stone pieces fell into the ureter during the surgeries. And there was no patients developing septic shock, adjacent viscera injury or other serious complications.@*Conclusion@#For seasoned doctors, there is no necessity of regularly artificial kidney seeper for PCNL when the pre-operation seeper ranging from 5 to 20 mm.