No abstract available.
Carcinoma, Renal Cell* ; Kidney Diseases* ; Kidney* ; Polycystic Kidney, Autosomal Dominant

The discovery of the genes and their respective proteins that are associated with autosomal dominant polycystic kidney disease (ADPKD) has revolutionized the field of ADPKD biology. Recent studies indicate that the pathogenesis of ADPKD is linked to abnormalities in the primary cilium in the kidney. Inactivation of ciliary proteins in the postnatal kidney has uncovered novel roles of primary cilia in regulating tubular growth and repair after injury. Furthermore, defective tubular repair after injury may contribute to the progression of ADPKD. Studies of signaling pathways that are perturbed in ADPKD have identified potential targets for pharmacological therapy. Better understanding of the downstream consequences of ADPKD mutations has identified a number of therapeutic targets that are now being tested in preclinical and clinical trials. The author summarized recent insights in the pathogenesis of ADPKD including the genetics of ADPKD, the properties of the respective polycystin proteins, the role of cilia, some cell-signaling pathways and new therapeutic interventions.
Biology ; Cilia ; Kidney ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant ; Proteins ; Vasopressins

Some cases of renal malignancy associated with adult (autosomal dominant) polycystic kidney disease have been reported. Most of these malignancies were diagnosed as renal cell carcinoma. But the case of transitional cell carcinoma has not been reported. We report a case of renal pelvic and urethral transitional cell carcinoma associated with adult polycystic kidney.
Adult* ; Carcinoma, Renal Cell ; Carcinoma, Transitional Cell* ; Humans ; Kidney ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant*

Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diagnosis, Differential ; Humans ; Infant ; Infant, Newborn ; Liver Diseases ; diagnosis ; genetics ; pathology ; Lung Diseases ; diagnosis ; genetics ; pathology ; Magnetic Resonance Imaging ; Mutation ; Polycystic Kidney, Autosomal Dominant ; diagnosis ; genetics ; pathology ; Polycystic Kidney, Autosomal Recessive ; diagnosis ; genetics ; pathology ; Prenatal Diagnosis ; Receptors, Cell Surface ; genetics ; Tomography, X-Ray Computed

Kidney transplantation is the preferred treatment in end stage renal disease for autosomal dominant polycystic kidney disease (ADPKD) patients. Removal of the native kidney is not usually recommended for ADPKD patients during a transplantation procedure because the operation time may be prolonged or the risk of bleeding may be higher. Therefore, native kidney removal is indicated for patients with chronic pain by enlarged kidney, frequent complications from cysts, such as infection or bleeding, and renal tumor development. Here, we report a case of a patient whose native kidneys were removed during a kidney transplantation procedure, and multifocal adenomas were identified in the removed kidneys after the procedure.
Adenoma* ; Chronic Pain ; Hemorrhage ; Humans ; Kidney ; Kidney Failure, Chronic ; Kidney Transplantation* ; Polycystic Kidney Diseases* ; Polycystic Kidney, Autosomal Dominant*

Segmental cystic disease of the kidney is a rare form of cystic disease of the kidney that manifests as variable sized, numerous cysts that are localized in a segment of one kidney. Morphologically and pathologically, it is indistinguishable from autosomal dominant polycystic kidney disease except for its unilateral localization, the lack of an autosomal dominant genetic background and the progressive deterioration of the renal function. We experienced a case of surgically confirmed segmental cystic disease of the kidney in a 49-year-old patient and we report on its ultrasonographic and CT findings, along with a brief review of the relevant literature.
Humans ; Kidney ; Kidney Diseases, Cystic ; Middle Aged ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant ; Tomography, X-Ray Computed

Huge hepatic cysts are rarely encountered in autosomal dominant polycystic kidney disease. Huge hepatic cyst bothers the patient either by compression or complications such as intracystic infections or hemorrhages. We report, here, alcohol instillation to treat a huge hepatic cyst causing compression symptom with improvement in size & symptom. A 49-year-old female patient presented with a 4-week history of indigestion and epigastric discomfort. Physical examination was remarkable for tender hepatomegaly. Computerized tomography revealed huge hepatic and kidney cysts. Ultrasonographic guided percutaneous drainage and four times alcohol sclerotherapy of the huge heptic cyst was successful. Relief of the symptoms was maintained after 18 days. This case shows that alcohol sclerotherapy can be a effective nonsurgical method of treating symptomatic huge hepatic cysts.
Alcoholics* ; Drainage ; Dyspepsia ; Female ; Hemorrhage ; Hepatomegaly ; Humans ; Kidney ; Middle Aged ; Physical Examination ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Sclerotherapy*

The development of renal cell carcinoma in auto-sornal dominant polycystic kidney disease hemodialyzed was rarely found. A sixty-six year old man has been hemodialyzed for four years. His end-stage renal failure was caused by autosomal dominant polycystic kidney disease. He presented the sudden onset of gross hematuria which does not cause any pain. Radi-ological examination showed the possibility of renal cell carcinoma in autosomal dominant polycystic kidney disease. The renal cell carcinoma was confirmed through nephrectomy and pathological examination. In this article, we present a case of renal cell carcinoma in autosomal dominant polycystic kidney disease hemodialyzed.
Carcinoma, Renal Cell* ; Hematuria ; Kidney Failure, Chronic ; Nephrectomy ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Renal Dialysis

The infantile polycystic kidney disease is rare urinary tract anomaly.It is inherited with an autosomal recessive pattern and recurrence rate is about 25%. The gene locus is on chromosome 6p. The pathogenesis of infantile polycystic kidney is the primary defect of the collecting ducts. The ultrasonographic findings of infantile polycystic kidney are oligohydroamnios, bilaterally symmetrical enlarged kidneys with maintenance of their reinform shape. The differential diagnosis with adult polycystic kidney disease and the examination of the parents and other members of the family is helpful to confirm the adult polycystic kidney disease. If there is severe renal involvements, stillbirth or neonatal death secondary to pulmonary hypoplasia will be developed. If it is diagnosed before viability, termination of pregnancy would be recommended. In a fetus diagnosed after viability, pregnancy termmination is also recommended since this condition is uniformly fatal. We present a case of infantile polycystic kidney.
Diagnosis, Differential ; Fetus ; Humans ; Kidney ; Parents ; Polycystic Kidney Diseases* ; Polycystic Kidney, Autosomal Dominant ; Pregnancy ; Recurrence ; Stillbirth ; Urinary Tract

The infantile polycystic kidney disease is rare fetal urinary tract anomaly. It is inherited with an autosomal recessive pattern and recurrence rate is 25%. The gene locus is on chromosome 6p. The pathogenesis of infantile polycystic kidney is the primary defect of the collecting ducts. The ultrasonographic finding of infantile polycystic kidney is oligohydramnios, bilaterally symmetrical enlarged kidneys with maintenance of their reinform shape. The differential diagnosis with adult polycystic kidney disease is important. The massive enlargement of the kidneys is rarely seen in adult polycystic kidney disease and the examination of the parents and other members of the family is helpful to confirm the adult polycystic kidney disease. If there is severe renal involvements, stillbirth or neonatal death secondary to pulmonary hypoplasia would be developed. If it were diagnosed before viability, termination of pregnancy is recommended. In a fetus at risk, diagnosed after viability, pregnancy termination is also recommended since this condition is uniformly fatal. We present a case of infantile polycystic kidney.
Diagnosis, Differential ; Female ; Fetus ; Humans ; Kidney ; Oligohydramnios ; Parents ; Polycystic Kidney Diseases* ; Polycystic Kidney, Autosomal Dominant ; Pregnancy ; Recurrence ; Stillbirth ; Urinary Tract