No abstract available.
Diagnosis* ; Polycystic Kidney, Autosomal Dominant*

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

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease. There are some reports in the literature concerning unilateral ADPKD. However, in adults, only a few cases of unilateral ADPKD with agenesis of contralateral kidney have been reported. We present a case of unilateral ADPKD with agenesis of contralateral kidney in a 66-yr-old man. Radiographic images showed the enlarged right kidney with multiple variable-sized cysts and the absence of the left kidney. The diagnosis of ADPKD was confirmed by the family screening. The patient received maintenance hemodialysis for endstage renal disease. We report a case of unilateral ADPKD associated with contralateral renal agenesis in a 66-yr-old male patient with a literature review.
Abdomen/pathology ; Aged ; Female ; Human ; Kidney/abnormalities* ; Male ; Pedigree ; Polycystic Kidney, Autosomal Dominant/diagnosis* ; Polycystic Kidney, Autosomal Dominant/pathology* ; Polycystic Kidney, Autosomal Dominant/physiopathology ; Radiopharmaceuticals/metabolism ; Technetium Tc 99m Dimercaptosuccinic Acid/metabolism

Unilateral renal cystic disease (URCD) is a rare, non-familial, non-progressive renal disorder that is not associated with cysts or disorders in other organs, and it is not related to other genetic cystic diseases. URCD is pathologically indistinguishable from autosomal dominant polycystic kidney disease (ADPKD). However, URCD is clinically and radiologically characterized by a negative family history, normal renal function and unilateral localization. We present here a case in which the final diagnosis was made by pathologic documentation through laparoscopic radical nephrectomy. This is the 26th case that has been reported on in the medical literature, and this case was pathologically diagnosed.
Diagnosis ; Humans ; Kidney Diseases, Cystic ; Laparoscopy ; Nephrectomy ; Polycystic Kidney, Autosomal Dominant

Localized cystic disease of the kidney is a rare entity with the gross and microscopic features of autosomal dominant polycystic kidney disease localized to only a portion of a kidney, and negative family history. We report a case of localized cystic disease of the kidney in a 38-year-old woman who complained of intermittent right flank pain for 1 year. The resected kidney showed multiple cysts measuring up to 4.0 3.5 3.0 cm, which were scattered throughout the mid- and lower poles of the kidney. Microscopically, the cystic lesion was composed of numerous cysts of variable size, lined by flattened epithelium. The intervening septa of the cysts contained normal or compressed renal tubules and glomeruli. Neither dysgenetic tissue such as immature cartilage or primitive mesenchymal tissue nor malignant cells was identified. Localized cystic disease should be included in the differential diagnosis of cystic lesions in the kidney.
Adult ; Cartilage ; Diagnosis, Differential ; Epithelium ; Female ; Flank Pain ; Humans ; Kidney* ; Polycystic Kidney, Autosomal Dominant

Unilateral renal cystic disease (URCD) is a multicystic disease, characterized by varying sized cysts localized in a diffusely enlarged kidney without forming a distinct encapsulated mass. Except for its unilaterality, gross and histological findings of URCD are indistinguishable from those of autosomal dominant polycystic kidney disease (ADPKD). However, unlike ADPKD, URCD patients show neither a genetic background nor progressive deterioration in renal function; thus, the differential diagnosis of URCD from ADPKD is important, especially from the genetic and prognostic standpoint. Usually, URCD patients have no cardiac valvular abnormalities and no cystic diseases in other intraperitoneal organ, except simple cyst. Intracranial aneurysm can be found in 5-10% of ADPKD patients, but not in previous reported fourteen URCD cases yet. We report a 41- year-old patient with URCD and cerebral artery aneurysm. Careful family history taking and ultrasonographic examination of his parents and siblings revealed that they have no renal cystic disease. We followed the patient for 13 months and his renal function did not deteriorate.
Aneurysm* ; Cerebral Arteries* ; Diagnosis, Differential ; Humans ; Intracranial Aneurysm ; Kidney ; Parents ; Polycystic Kidney, Autosomal Dominant ; Siblings

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

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by renal cyst formation, hypertension, and end-stage renal disease. For many years, ADPKD was considered an adult disease. In fact, it may occur at any time in life including in utero. We experienced a case of ADPKD at 34 weeks of gestation. On ultrasound, both kidnies were enlarged and echogenic. Amniotic fluid index was normal. We discovered a family history of paternal origin. Sonographic findings of bilaterally enlarged and echogenic kidnies without oligohydroamniosis may suggest ADPKD. Renal ultrasound examination of parents is useful in the diagnosis of ADPKD.
Adult ; Amniotic Fluid ; Diagnosis* ; Female ; Humans ; Hypertension ; Kidney Failure, Chronic ; Parents ; Polycystic Kidney, Autosomal Dominant* ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography

Urinothorax is rare cause of pleural effusion. Urinothorax should be considered when pleural effusion occurs in patients with urinary tract obstruction accompanied by retroperitoneal urinoma. It has been reported in patients with trauma, malignancy, kidney biopsy and renal transplantation. Most cases are diagnosed retrospectively by promt resolution of symptoms after relief of urinary obstruction. But diagnosis can be made based on clinical suspicion, radiological findings and biochemical analysis of the effusion and most important finding is the pleural level of creatinine is higher than the serum level. We experienced right pleural effusion in autosomal dominant polycystic kidney disease hemodialyzed. The patient had right urinoma in the retroperitoneal space before pleural effusion developed. After 3month, he complained acute dyspnea. There was no effect in resolving effusion by lowering dry weight. We thought alternative diagnostic possibility, urinothorax and checked the pleural fluid to serum creatinine ratio. Finally concluded that pleural effusion was urinothorax secondary to remnant left polycystic kidney rupture and tried left nephrectomy. The patient showed reduction of pleural effusion. It is important to alert physician to this condition and to avoid the other invasive diagnostic study.
Biopsy ; Creatinine ; Diagnosis ; Dyspnea ; Humans ; Kidney ; Kidney Transplantation ; Nephrectomy ; Pleural Effusion ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant* ; Renal Dialysis ; Retroperitoneal Space ; Retrospective Studies ; Rupture ; Urinary Tract ; Urinoma