Abstract

Objective To study the genetic diagnosis and treatment of von Hippel-Lindau disease without angioma. Methods We retrospectively analyzed clinical data of two cases with VHL and review the related literature.On September 2009, we treated one 30 years old male patient with VHL.Laboratory tests showed that the 24h urine VMA was 166.27μmol/24h.MRI examinations showed a right adrenal mass, which was considered as pheochromocytoma; multiple small cysts kidney; bilateral epididymal multiple nodules; multiple pancreatic cysts.After careful preoperative preparation, the patient underwent right adrenal tumor resection under general anesthesia.During surgery, multiple kidney tumors were noticed, which the freezing pathological diagnosis was clear cell carcinoma.Then, the right radical nephrectomy was performed.The final pathological diagnosis was right adrenal pheochromocytoma and right renal cell carcinoma.Interferon and interleukin-2 therapy were given to the patient after surgery.The patient underwent bilateral epididymal nodule resection, which the pathological diagnosis was papillary cystadenoma.According to those results, a type Ⅱ VHL disease was considered.The patients' family members were further reviewed and accepted the related clinical examinations.We found that his brother had multiple renal tumors and cysts, multiple pancreatic cysts.Because his brother suffered from type Ⅱ VHL disease.the second patient was diagnosed Ⅱ type VHL disease, as well.Since the patient's right kidney tumors were multiple and larger than the left one, he received radical right nephroectomy.Due to the small size of left renal tumor, no additional surgery was further performed.The tumor was diagnosed clear cell carcinoma after surgery.We treated him with interferon and interleukin-2.To move forward a single step, we extracted peripheral blood from two cases and son of one case.We extracted genome DNA, using the meliorated method to amplify three exons located in the translating and splicing region, sequence directly them after purifying and compare with the human mutation database. Results There are no angioma tendency in the retina and central nervous system of the two patients who have polycystic kidney disease, kidney cancer, the pancreas multiple cysts and bilateral testicular multiple cystic lesions.In the gene sequencing of three patients, the 452th nucleotide guanine of the VHL gene was substituted by thymine, resulting in the 78th encode ASP substituted by Ser.The genetic mutations sites in the dendrogram locate in the exon 1 which are all point mutations. Conclusions The character of the sporadic example without angioma correspond with VHL.We can make a explicit diagnosis by genetic mutations examination.In the treatment, it should be adopted by the radical excision on the base of protecting the kidney. Key words: von Hippel-Lindau disease; Kindred study; VHL genes; Diagnosis and treatment

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