PURPOSE Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life. Understanding the underlying anatomy of renal innervation and the various etiologies of pain that occur in autosomal dominant polycystic kidney disease can help guide proper treatments to manage pain. Reviewing previ...

Moyamoya disease has been associated with renal artery stenosis, cerebral hemorrhage, and multiple cranial traumas. We report a unique case of moyamoya disease associated with polycystic kidney disease and eosinophilic granuloma. Although the etiology of moyamoya disease is unknown, a familial pattern of occurrence has been documented. Of particular importance is its presentation with polycysti...

A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to prim...

Key words: renal artery stenosis; polycystic kidney acute tubular necrosis in the presence of adult polycystic kidney disease. disease His creatinine reached a nadir of 182 mmol/l a year later. Over the next 5 years the creatinine rose slowly to

The etiology of adenoma of the ampulla of Vater is not well understood. Previous authors reported the association of this neoplasm with polycystic kidney disease of two fraternal sisters. They concluded that these two conditions were somehow related. We describe a case of ampullary adenoma associated with polycystic kidney disease. This presentation raises again the question of a possible link ...

This reports a family with congenital hepatic fibrosis and adult polycystic kidney disease. Adult polycystic kidney disease was present in three generations. In addition, congenital hepatic fibrosis occurred in two members of the third generation. These conditions are generally held to have different modes of inheritance and the significance of their occurrence together is not clear.

a. We recommend that unenhanced computed tomography is the preferred imaging modality for the diagnosis of suspected nephrolithiasis in autosomal dominant polycystic kidney disease (1B). b. We recommend that patients with autosomaldominant polycystic kidney disease complicated by nephrolithiasis should be investigated for predisposing urinary metabolic abnormalities (1C) and we suggest receive ...

Caroli's syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycystic kidney disease. However, there has been only few case reports published with Caroli's syndrome...

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormaliti...

Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndro...