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

A multilocular cyst of kidney is a rare pathological entity, which has been reported in the literature under several names. These various names reflect the controversy surrounding their nature. This tumor is traditionally regarded as benign in nature and a nephrectomy has to be performed because of the difficulty in its accurate diagnosis. Malignant recurrence of a multilocular cyst of kidney has an even rarer incidence, with only a few cases having been reported. We report a case of 50-year-old male, with an incidentally detected right renal cystic mass. This mass was pathologically confirmed as a multilocular cyst of kidney after a radical nephrectomy, which locally recurred as a malignant mesoblastic nephroma.
Diagnosis ; Humans ; Incidence ; Kidney Diseases, Cystic ; Kidney* ; Male ; Middle Aged ; Nephrectomy ; Nephroma, Mesoblastic ; Recurrence*

The discovery of an abdominal mass in a child usually presents a challenging problem in diagnosis and therapy to the pediatrician, surgeon and urologist. In abdominal masses, the fact that the kidney is the organ which singly produced more palpable masses than any other abdominal organ or even tract was accepted universally and most frequent causes were hydronephrosis, cystic kidney and Wilms` tumor in foreign literatures. In recent retrospective study of 52 cases of palpable abdominal masses in Korean infants and children, we obtained results as follows: 1) The kidney is the most common cause of palpable abdominal mass(86.5%). 2) Of 45 cases of renal masses, hydronephrosis is the most common(60%). 3) Of 45 cases of renal masses, Wilms` tumor is common(37.8%) but cystic kidney is rare(2.2%). 4) The most common cause of solid abdominal mass is Wilms` tumor(74%). 5) The most common cause of hydronephrosis is congenital UPJ obstruction(70%). 6) Neuroblastoma is seldom encountered.
Child* ; Diagnosis ; Humans ; Hydronephrosis ; Infant* ; Kidney ; Kidney Diseases, Cystic ; Neuroblastoma ; Retrospective Studies

OBJECTIVE: To explore the genetic etiology of two fetuses with 17q12 microdeletion syndrome. METHODS: Chromosomal karyotype analysis, whole exome sequencing (WES) and chromosomal microarray analysis (CMA) were carried out for the fetuses. Relevant literature was searched in databases such as CNKI, Wanfang and PubMed to summarize the prenatal ultrasound finding, pregnancy outcome and clinical phenotype of the syndrome. RESULTS: Both fetuses were found have renal parenchymal echo enhancement, accompanied by presence of renal cysts or hydramnios. Both were found to have a normal chromosomal karyotype, but had a 17q12 microdeletion by WES and CMA analysis. A total of 433 cases of 17q12 microdeletion syndromes have been reported in the literature, with renal cysts and diabetes as the most common phenotypes. Among 240 fetuses diagnosed with this syndrome, 72.9% showed unilateral or bilateral renal parenchymal echo enhancement, and 23.3% showed unilateral or bilateral renal cysts. Among these, 68 had reported the pregnancy outcome, for which 70.5% of pregnant women had opted termination of the pregnancy. CONCLUSION WES and CMA can effectively detect 17q12 microdeletion. The clinical manifestations of this syndrome mainly include enhanced renal parenchymal echo, renal cyst, kidney disease and early-onset diabetes. Upon prenatal consultation, the prognosis of the fetus should be fully informed, and advice should be provided in combination with the preference of the couple, pregnancy history, family condition and other aspects.
Chromosome Disorders/diagnosis* ; Female ; Fetus ; Humans ; Karyotyping ; Kidney Diseases, Cystic ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Syndrome

A retrospective analysis was made in 189 cases with palpable abdominal mass in children including a comparison of ultrasonography and computed tomography. Of the 189 cases, 100(52.9%) were of urological cause and, of those, 89 were renal in origin Extraurinary origins included gastrointestinal and hepatobiliary tract, and ovary in order. Among 100 cases of urological cause, hydronephrosis (63 cases) was the most common cause. Remaining was Wilms' tumor (16 cases) and cystic renal disease (10 cases) respectively. Most cases of Wilms tumor (15/16) were presented beyond 1 year of age. The diagnostic accuracy of ultrasonography and computed tomography was 91.2% and 89.2% respectively in this series. In 22 cases of combined study of ultrasonography and computed tomography, no additional information has obtained from the computed tomography in terms of diagnosis and staging of the disease. It is concluded that ultrasonography accurate and useful diagnostic method for the evaluation of the disease and the staging of neoplastic disease in children.
Child* ; Diagnosis ; Female ; Humans ; Hydronephrosis ; Kidney Diseases, Cystic ; Ovary ; Retrospective Studies ; Ultrasonography ; Wilms Tumor

PURPOSE: To evaluate by US and CT the incidence and complications of acquired cystic kidney disease (ACKD) in dialysis and renal transplant patients and to compare the effectiveness of US and CT in the diagnosis of this entity. MATERIALS AND METHODS: This study was prospectively performed in 70 dialysis patients and 13 renal transplant patients, and excluded any with multiple renal cysts or polycystic kidney disease, on as seen on initial films. US were obtained in all patients, and CT scans were randomly obtained in 27 who had been on dialysis for 3 years or more; all these US and CT scans were analyzed, with particular emphasis on whether or not cysts were present. In order to correlate the numbers of cysts with duration of dialysis, all patients were assigned to one of three groups, according to the number of cysts found (group 1, 0; group 2, 1-4; group 3, >4).Only group 3 was diagnosed as suffering from ACKD. In order to compare the cyst-detection capability of US with that of CT, 27 dialysis patients who had undergone US and CT were divided into four groups according to the numberof cysts found (grade 1, 0; grade 2, 1-4; grade 3, 5-10; grade 4, >10). RESULTS: Seventy dialysis patients were divided according to the results of US, as follows : group 1, 20%; group 2, 47.1%; group 3, 32.9%. The mean duration of dialysis in group 1 (31.9 months) was statistically different from that in group 2 (50.6 months) and in group 3 (95.8 months) (p<0.000). Thirteen renal transplant patients were divided as follows : group1, 61.5%; group 2, 38.5%; group 3, 0%. In dialysis patients with ACKD, complications noted were renal cell carcinoma(n=1), hemorrhagic cysts(n=2), and hematomas(n=2) Among the 27 dialysis patients who underwent CT, this and US showed an equal grade of cystic change in 53.7%, while CT showed a higher grade in 46.3%. The detection rate of ACKD in these 27 patients was 46% on US and 63% on CT. CONCLUSION: A prolongation of dialysis corresponded to an increased incidence of ACKD; renal neoplasm and hemorrhage may occur in dialysis patients, but ACKD and its complications did not develop in renal transplant patients. In long-term dyalysis patients, regular follow-up studies of kidneys using US or CT are therefore needed. CT was superior to US in diagnosing ACKD.
Diagnosis ; Dialysis* ; Follow-Up Studies ; Hemorrhage ; Humans ; Incidence ; Kidney ; Kidney Diseases, Cystic ; Kidney Neoplasms ; Polycystic Kidney Diseases ; Prospective Studies ; Tomography, X-Ray Computed ; Ultrasonography*

The renal polycystic disease is familial, almost always bilateral and often involves liver and pancreas as well. It is the most common form of cystic kidneys it humans. Adult renal polycystic disease usually presents in the 4th or 5th decade as an abdominal mass or with signs and symptoms of hematuria, infection, hypertension or renal failure. A clinical observation was made on 13 congenital renal polycystic disease patients who were admitted to our department from June, 1968 to May, 1980. The results obtained were as follows 1. Of 2252 cases hospitalized, 13 cases were congenital renal polycystic disease, giving a ratio of 173:1. The age ranged from 22 to 58 years, and most favorable age was over 35 years (62%). 2. The chief complaints were palpable abdominal mass in 51%, pain in 38% and gross hematuria in 15%. 3. Hypertension was found in 85%, hepatic cyst in 23% and renal stone in 15%. 4. Familial tendency was noted in 54%. 5. Laboratory study showed anemia in 38%, azotemia in 31%. hematuria in 62%, proteinuria in 46% and pyuria in 38%. 6. Ultrasonography appears to be superior to excretory urography in diagnosis of the renal polycystic disease. On pyelography, increased intercalyceal length was exhibited, 11.0 (1.00cm on left kidney and 10.6 ( 1. 97 cm on right kidney. The cortical thickness was also increased to 5.0 ( 1. 54 cm on left kidney and 4.6 ( 0. 86cm on right kidney 7. The patients were managed by medical treatment in 46%, nephrectomy 23% and marsupialization of the cyst in 15%.
Adult ; Anemia ; Azotemia ; Diagnosis ; Hematuria ; Humans ; Hypertension ; Kidney ; Kidney Diseases, Cystic ; Liver ; Nephrectomy ; Pancreas ; Proteinuria ; Pyuria ; Renal Insufficiency ; Ultrasonography ; Urography

Renal lymphangiectasia is a rare cystic kidney disorder. This disorder has been termed renal lymphangioma, renal lymphangiomatosis, pararenal lymphatic cyst. We report on a 32-year-old man admitted with complaints of abdominal discomfort, in whom unilateral renal lymphangiectasia with renal vein thrombosis was diagnosed. Abdominal computed tomography revealed left perirenal fluid collection with multiloculation. Left renal vein was completely obliterated due to thrombosis and inferior vena cava (IVC) was partially obliterated. Perirenal fluid collection and renal vein thrombosis were treated initially with percutaneous drainage and anticoagulation therapy. The biochemical features of the drained fluid were compatible with lymphatic fluid. Since there was no decrease in the amount of daily drainage, left nephrectomy and IVC thrombectomy was performed on the 34th day of hospitalization. Left kidney was enlarged (15x10x18 cm, 750 g) and composed of numerous smooth, thin-walled cysts. Pathologic diagnosis was renal lymphangiectasia.
Adult ; Diagnosis ; Drainage ; Hospitalization ; Humans ; Kidney ; Kidney Diseases, Cystic ; Lymphangioma ; Lymphocele ; Nephrectomy ; Renal Veins* ; Thrombectomy ; Thrombosis* ; Vena Cava, Inferior

OBJECTIVETo explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).

METHODThe clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.

RESULTThe age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).

CONCLUSIONJoubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

Abnormalities, Multiple ; Cerebellar Diseases ; diagnosis ; physiopathology ; Cerebellum ; abnormalities ; Child ; Eye Abnormalities ; diagnosis ; physiopathology ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; physiopathology ; Male ; Retina ; abnormalities ; physiopathology

OBJECTIVETo study the clinical features, treatment and diagnosis of parapelvic cyst.

METHODSTwenty-three patients of parapelvic cyst of the kidney were reviewed retrospectively. Fourteen cases (61%) complained of lumbar pain or discomfort, and 4 patients (17%) accompany hematuria and hypertension.

RESULTSIn 15 patients receiving surgery, 2 were treated by nephrectomy, one by radical nephrectomy for misdiagnosis. Postoperative diagnosis confirmed a cyst. Eight patients were treated conservatively for cyst being small and without clinical symptoms. Nineteen cases were followed up for 0.5 - 12.0 years.

CONCLUSIONSUltrasonography and CT scan are the main diagnostic methods. Enhanced CT is extremely helpful in differential diagnosis of hydronephrosis. Surgical management is suitable for big cysts, lumbar pain, hematuria, hypertension and other complications.

Adult ; Aged ; Diagnosis, Differential ; Female ; Humans ; Kidney Diseases, Cystic ; diagnosis ; etiology ; surgery ; Kidney Pelvis ; Male ; Middle Aged ; Prognosis ; Tomography, X-Ray Computed