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Informative Article | Medicine | India | Volume 12 Issue 1, January 2023 | Popularity: 4.6 / 10

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A Rare Case of Von-Hipple Lindau Syndrome

Dr. Mrugank Vyas, Dr. Zalak Gadani, Dr. Dhruvi Brahmbhatt

Abstract: Von Hippel-Lindau disease (VHL) is an inherited cancer syndrome with renal manifestations. VHL is an autosomal dominant condition caused by mutations in the VHL tumor-suppressor gene. VHL is localized to the primary cilia and is necessary for the formation of primary cilia. Like many autosomal dominant cancer syndromes, VHL is recessive at the cellular level: a somatic mutation in the second VHL allele leads to loss of VHL in the cell and abnormal growth. Kidney manifestations of VHL include multiple bilateral kidney cysts, and renal cell carcinomas. Non-renal features of VHL include pheochromocytomas, cerebellar hemangioblastomas, and retinal hemangiomas. Kidney cysts and carcinoma affects the majority of VHL patients. Diagnosis is typically made from a positive family history consistent with autosomal dominant inheritance and multiple kidney cysts bilaterally. Renal ultrasonography is often used for presymptomatic screening of at-risk subjects and for evaluation of potential living-related kidney donors from ADPKD families. We present a case of a 35 years old female having a history of recurrent urinary tract infection, uterine prolapse since 4 years presented with hematuria and burning micturition and fever associated complaint of back pain. Ultrasound of kidneys showed multiple cortical cysts noted throughout right kidney with increased echogenicity of intervening normal cortex, moderate to gross hydronephrosis with dilated ureter up to lower end. CT-KUB showed multiple cortical cysts in both cysts with pancreatic cyst, possibility of ADPKD von hipple lindau syndrome Patient was treated symptomatically with antibiotics according to culture and sensitivity and fluids with antipyretic were given, proper reposition of the uterus was done patient.

Keywords: Von-Hipple Lindau Syndrome

Edition: Volume 12 Issue 1, January 2023

Pages: 111 - 112

DOI: https://www.doi.org/10.21275/MR23102133315

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