Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystins (PC-1 or PC-2), in which cysts start from the collecting duct to extend to all nephron segments with eventual end stage renal failure. The cyst development is attenuated by a vasopressin V2 receptor antagonist tolvaptan which, however, will not affect proximal tubule cysts devoid of V2 receptor. Aquapo...

Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15-50% of patients with OFD1 progress to end-stage kidney disease following development of polycystic changes within the kidneys....

As with other forms of end-stage kidney disease, transplantation is the treatment of choice for patients with autosomal dominant polycystic kidney disease (ADPKD) [1]. Transplantation is both life-extending and provides a superior quality of life for those patients who reach the need for renal replacement therapy. Most transplant centers proceed with transplantation either from a living donor o...

AIM To define specific manifestations of autosomal dominant polycystic kidney disease in kidney transplant patients. METHODS Of 874 consecutive first renal transplant patients 1985-1993, 114 (13%) had autosomal dominant polycystic kidney disease (ADPKD). Mean age was 53 +/- 8 years, 62% were men, and 83% received cadaveric kidneys. Control patients were matched for sex, age and donor type. Me...

BACKGROUND Although organ donors are rigorously tested, occasionally an unidentified donor disease can be transmitted to the recipient. These conditions include malignancies, infections, and, rarely, congenital diseases. CASE REPORT We report a case of an inadvertent transmission of polycystic kidney disease from a 40-year-old trauma victim to both kidney recipients. There was no family histo...

BACKGROUND We set out to determine the prevalence of incidental intracranial aneurysms in first-degree relatives aged 30 years or more of people with intracranial aneurysms, and to see if polycystic kidney disease contributes to the aggregation of familial intracranial aneurysms. METHODS 91 families with two or more affected members had previously been identified from a 14 year series of 1150...

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...

We herein report two rare cases of bilateral renal neoplasms associated with autosomal dominant polycystic kidney disease (ADPKD). Case 1: Bilateral nephrectomy was performed on bilateral renal masses in a 58-year-old man with ADPKD. Case 2: Bilateral nephrectomy was performed on bilateral renal masses in a 32-year-old man with clinically suspected ADPKD. In case 1, angiomyolipoma (AML) and pap...

Goldston syndrome is a rare entity describing the association of polycystic kidneys and Dandy Walker malformation with or without hepatic fibrosis. A 28 years old pregnant woman came to radiology department for the first antenatal scan. Ultrasound showed a single fetus corresponding to 27 week of gestation. The fetal brain revealed deficient vermis with a posterior fossa cyst communicating with...