Because autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic abnormalities seen in today's medical practice, many internists will likely treat patients affected by this condition. Genetic abnormalities have been increasingly recognized, and the pathophysiology of the disease is beginning to be unraveled. Because of advances in imaging technology, surrogate markers for disease progression have allowed clinical studies of newer therapeutic agents to proceed. In the near future, therapies for this common genetic disease may be available to either prevent or stabilize the disease course for many affected individuals.
Humans ; *Polycystic Kidney, Autosomal Dominant/complications/diagnosis/genetics/therapy ; Prognosis

Recent advances in dialysis and a multidisciplinary approach to pregnant patients with advanced chronic kidney disease provide a better outcome. A 38-yr-old female with autosomal dominant polycystic kidney disease (ADPKD) became pregnant. She was undergoing hemodialysis (HD) and her kidneys were massively enlarged, posing a risk of intrauterine fetal growth restriction. By means of intensive HD and optimal management of anemia, pregnancy was successfully maintained until vaginal delivery at 34.5 weeks of gestation. We discuss the special considerations involved in managing our patient with regard to the underlying ADPKD and its influence on pregnancy.
Adult ; Female ; Fetal Growth Retardation/etiology ; Humans ; Kidney Failure, Chronic/therapy ; Polycystic Kidney, Autosomal Dominant/*diagnosis ; Pregnancy ; Renal Dialysis ; Risk Factors ; Tomography, X-Ray Computed

OBJECTIVETo review the history and recent development of research on autosomal dominant polycystic kidney disease (ADPKD) in China.

DATA SOURCESBoth Chinese and English literatures were searched in MEDLINE/CD ROM (1979 - 2006) and the Chinese Biomedical Literature Disk (1979 - 2006).

STUDY SELECTIONPublished articles about ADPKD from mainland of China were selected. Data were mainly extracted from 58 articles which are listed in the reference section of this review.

RESULTSSome preliminary reports on cyst decompression surgeries and mutation analysis represent the contribution to the ADPKD research from China in the history. A serial of basic research and clinical studies on ADPKD in recent years also have been summarized. A technique platform for ADPKD research was firstly established. The genomics/proteomics/bioinformatics approach was introduced, which provide a lot of valuable information for understanding the pathogenesis. By denature high performance liquid chromatography (DHPLC) technique the entire PKD1 and PKD2 gene sequence screening system for Chinese Han population has been successfully established. Based on the characteristic data of Chinese patients, an integrated therapy protocol was put forward and won an advantage over the traditional therapy. Some novel experimental studies on therapy also were encouraging.

CONCLUSIONSRemarkable progress of ADPKD research in China have been made recently. Still many works, including the government support, international collaboration and active participation of more Chinese nephrologists, should be enhanced to advance this process in the near future.

Cell Line ; China ; Humans ; Peptide Fragments ; analysis ; Polycystic Kidney, Autosomal Dominant ; diagnosis ; etiology ; genetics ; therapy ; Receptor, Epidermal Growth Factor ; antagonists & inhibitors ; Research ; TRPP Cation Channels ; analysis

Polycystic kidney disease is an autosomal dominant disease that may be associated with liver and pancretic cysts. Mitral valve prolapse and intracranial berry aneurysms are also well-known manifestations of autosomal dominant polycystic kidney disease (ADPKD). Cystadenocarcinoma of the pancreas is uncommon and accounts for only 1% of primary pancreatic malignancies. Few cases were reported to have an association of ADPKD and pancreatic malignancies. We report a 63-year-old man with ADPKD who was admitted to our hospital with anorexia and severe weight loss. After abdominal CT and histologic examination, he was diagnosed as pancreatic cystadenocarcinoma with lung, spleen, and liver metastasis. To prolong the life of the patient, we tried gemcitabine and cisplatin combination chemotherapy. But the patient died 2 months after diagnosis due to the disease progression.
Anorexia ; Cisplatin ; Cystadenocarcinoma* ; Diagnosis ; Disease Progression ; Drug Therapy, Combination ; Humans ; Intracranial Aneurysm ; Liver ; Lung ; Middle Aged ; Mitral Valve Prolapse ; Neoplasm Metastasis ; Pancreas* ; Pancreatic Neoplasms ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Spleen ; Tomography, X-Ray Computed ; Weight Loss

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorder that accounts for 8-10% of patients receiving renal replacement therapy in Unites States and Europe, and approximately 2% in Korea. ADPKD patients on renal replacement therapy constitute a particular group with typical clinical charateristics and differences from other patients on renal replcement therapy. The objective of this study was to assess clinical features, morbidity, mortality and technical survival in end stage renal disease (ESRD) patients with ADPKD and compare these between each renal replacement therapy. METHODS: We retrospectively analyzed 70 ADPKD patients who received renal replacement therapy in Yonsei university medical center (Jan. 1980-Dec. 2001). RESULTS: Among a total of 70 patients, 41 patients were male and 29 patients were female. Mean age was 45.6+/-10.7 years and average time from diagnosis of ADPKD to start of renal replacement therapy was 5.1+/-5.6 years. As the initial mode of renal replacement therapy, 25 patients started on hemodialysis, 26 patients started on CAPD and 19 patients received renal transplantation. Clinical features and laboratory findings at the initiation of renal replacement therapy had no significant differences between each renal replacement therapy. Cumulative and technical survival in ESRD patients with ADPKD receiving each renal replacement therapy had no significant differences according to Kaplan-Meier. Seven patients died within study period, including 3 hemodialysis patients, 2 CAPD patients and 2 renal transplantation patients. The most common cause of death was infection followed by bleeding and malignancy. Among patients on CAPD, 10 patients had stopped CAPD because of peritonitis, hernia, ultrafiltration failure and CAPD leakage. CONCLUSION: In summary, there were no significant differences of clinical features, cumulative and technical survival between each renal replacement therapy in ADPKD patients. The most frequent reason for cessation of CAPD was peritonitis. The most common cause of death was infection in ESRD patients with ADPKD.
Academic Medical Centers ; Cause of Death ; Diagnosis ; Europe ; Female ; Hemorrhage ; Hernia ; Humans ; Kidney Failure, Chronic* ; Kidney Transplantation ; Korea ; Male ; Mortality ; Peritoneal Dialysis, Continuous Ambulatory ; Peritonitis ; Polycystic Kidney, Autosomal Dominant* ; Renal Dialysis ; Renal Replacement Therapy* ; Retrospective Studies ; Ultrafiltration

Polycystic liver is the most common extra-renal manifestation associated with autosomal dominant polycystic kidney disease (ADPKD), comprising up to 80% of all features. Patients with polycystic liver often suffer from abdominal discomfort, dyspepsia, or dyspnea; however, there have been few ways to relieve their symptoms effectively and safely. Therefore, we tried transcatheter arterial embolization (TAE), which has been used in treating hepatocellular carcinoma. We enrolled four patients with ADPKD in Seoul National University Hospital, suffering from enlarged polycystic liver. We embolized the hepatic arteries supplying the dominant hepatic segments replaced by cysts using polyvinyl alcohol particles and micro-coils. The patients were evaluated 12 months after embolization for the change in both liver and cyst volumes. Among four patients, one patient was lost in follow up and 3 patients were included in the analysis. Both liver (33%; 10%) and cyst volume (47.7%; 11.4%) substantially decreased in two patients. Common adverse events were fever, epigastric pain, nausea, and vomiting. We suggest that TAE is effective and safe in treating symptomatic polycystic liver in selected ADPKD patients.
Aged ; Catheterization ; Cysts/*therapy ; Embolization, Therapeutic/instrumentation/*methods ; Female ; Hepatic Artery ; Humans ; Liver/pathology/physiology ; Liver Diseases/pathology/*therapy ; Middle Aged ; Polycystic Kidney, Autosomal Dominant/diagnosis/*therapy ; Polyvinyl Alcohol/therapeutic use ; Tomography, X-Ray Computed

A 62-yr-old woman with an autosomal dominant polycystic kidney disease (ADPKD) was admitted to our hospital for further evaluation of intermittent fever, nausea and left flank discomfort. The computed tomography (CT) scan revealed a gas-forming, infectious cyst of approximately 8.1 cm in size in left kidney lower pole. Escherichia coli was identified from the cyst fluid culture examination. Her symptoms improved only after the concomitant use of intravenous ciprofloxacin and an intracystic irrigation of ciprofloxacin through a percutaneous cystostomy drainage. Our case presents the successfully treated emphysematous cyst infection with combination of intravenous antibiotics and intracystic antibiotic therapy instead of surgical management.
Anti-Bacterial Agents/*therapeutic use ; Ciprofloxacin/*therapeutic use ; Cystostomy ; Cysts/microbiology ; Escherichia coli Infections/complications/*drug therapy ; Female ; Humans ; Injections, Intravenous ; Middle Aged ; Polycystic Kidney, Autosomal Dominant/complications/*diagnosis ; Therapeutic Irrigation ; Tomography, X-Ray Computed

End stage renal disease(ESRD) is a well-known major complication of autosomal polycystic kidney disease(ADPKD). Several risk factors of renal progression in ADPKD were identified, such as PKD1 gene, male gender and earlier age of onset. In Korea, ADPKD is a cause of ESRD in 2% of hemodialysis patients. Until now, only a few detailed studies have been performed in regarding to evaluate the risk factor for ESRD especially in the Asian population. 148 ADPKD patients were registered to PKD clinic in our hospital(Mar. 1996-Dec. 1999). Among them, 34 patients(male : female = 14 : 20) who had started renal replacement therapy were studied to elucidate clinical characteristics including the nature of progression of renal failure. These data were compared with 14 patients(male : female = 3 : 11) who did not develop renal failure(serum creatinine < OR =1.4 mg/dL) at the age of 50 years. Median age at the diagnosis of ADPKD was 43 years(range : 22-65 years), median age at initiation of renal replacement therapy(RRT) was 52.5 years(28-73) and median duration from the diagnosis to RRT were 6 years(0-30). The prevalence of gross hematuria, proteinuria (>1g/24h), urolithiasis, upper urinary tract infection, hypertension and liver cysts were 69, 54, 16, 29, 85 % and 85%, respectively. 84% of these patients had family members with ADPKD and 10% of them had ESRD family members. PKD1 vs. PKD2 was 7 : 1 in 8 patients with ESRD and 1 : 1 in 2 patients of control group. Gross hematuria and proteinuria were more prevalent in ESRD patients than the control group(p=0.001 and p=0.0008, respectively). In 18 patients with ESRD, rates of renal progression were traced using a reciprocal of serum creatinine(1/Cr) curve. Once azotemia(serum creatinine value > OR =1.5 mg/dL) developed, the median rate of decline of 1/Cr was -0.073dL/mg/year(range : -0.046--0.114dL/mg/year), which was constant irrespective of either the age of onset or sex. In summary, in 34 patients, the renal function seemed to be maintained to a certain age. But, once azotemia developed, the renal function was rapidly declining with similar rate, ended up ESRD in 8.2 years. Presence of gross hematuria and proteinuria were associated with poor prognosis.
Age of Onset ; Asian Continental Ancestry Group ; Azotemia ; Creatinine ; Diagnosis ; Female ; Hematuria ; Humans ; Hypertension ; Kidney Failure, Chronic* ; Korea ; Liver ; Male ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Prevalence ; Prognosis ; Proteinuria ; Renal Dialysis ; Renal Insufficiency ; Renal Replacement Therapy ; Risk Factors ; Urinary Tract Infections ; Urolithiasis