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

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

The primary cilium of renal epithelia acts as a transducer of extracellular stimuli. Polycystin (PC)1 is the protein encoded by the PKD1 gene that is responsible for the most common and severe form of autosomal dominant polycystic kidney disease (ADPKD). PC1 forms a complex with PC2 via their respective carboxy-terminal tails. Both proteins are expressed in the primary cilia. Mutations in either gene affect the normal architecture of renal tubules, giving rise to ADPKD. PC1 has been proposed as a receptor that modulates calcium signals via the PC2 channel protein. The effect of PC1 dosage has been described as the rate-limiting modulator of cystic disease. Reduced levels of PC1 or disruption of the balance in PC1/PC2 level can lead to the clinical features of ADPKD, without complete inactivation. Recent data show that ADPKD resulting from inactivation of polycystins can be markedly slowed if structurally intact cilia are also disrupted at the same time. Despite the fact that no single model or mechanism from these has been able to describe exclusively the pathogenesis of cystic kidney disease, these findings suggest the existence of a novel cilia-dependent, cyst-promoting pathway that is normally repressed by polycystin function. The results enable us to rethink our current understanding of genetics and cilia signaling pathways of ADPKD.
Calcium ; Cilia* ; Genetics ; Kidney Diseases, Cystic ; Polycystic Kidney, Autosomal Dominant* ; Transducers ; TRPP Cation Channels*

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.
Bile Ducts, Intrahepatic ; Dilatation ; Exons ; Fibrosis ; Frameshift Mutation ; Kidney ; Kidney Diseases, Cystic ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Recessive*

OBJECTIVE: To explore the clinical features and genomic abnorm ality of a fetus enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation. METHODS: The fetuse was found to have multicystic dysplastic kidneys with oligohydramnios upon ultrasonography during the second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA, chromosomal microarray analysis (CMA) and whole exome sequencing (WES). Sanger sequencing was used to verify the suspected variants in the family. RESULTS: Antenatal ultrasound examination at 19 weeks showed "polycystic" kidneys with Oligohydramnios. Delivery was by induced labour because of the critically low amniotic fluid volume. Testing of CMA was normal. WES showed a compound heterozygous mutation of c.1817G>A, p.W606X; c.432dupA, p.E145Rfs*18 mutations are novel mutations in this study. CONCLUSION The research may further expand the NPHP3 gene mutation spectrum. Enlarged multicystic dysplastic kidneys with oligohydramnios caused by NPHP3 gene mutation at least include one or two splice site mutation, frameshift mutation or nonsense mutation foetal poor prognosis.
Amniotic Fluid ; Female ; Humans ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney/genetics* ; Mutation ; Oligohydramnios/genetics* ; Polycystic Kidney Diseases ; Pregnancy ; Ultrasonography, Prenatal

Acquired cystic kidney disease (ACKD), a common complication in patients with end-stage renal disease, is characterized by more than three kidney cysts and normal or decreased sizes of both kidneys without any familial history of cystic kidney disease. In autosomal dominant polycystic kidney disease (ADPKD), however, both kidneys are usually enlarged. Extrarenal manifestations are common in ADPKD, including hepatic cysts, seminal vesicle cysts, mitral valve prolapse. A 40-year-old man presented to the emergency clinic at Inha University Hospital with severe abdominal pain, nausea, and vomiting for 3 days. He had been undergoing continuous ambulatory peritoneal dialysis (CAPD) for 15 years, but it was recently changed to hemodialysis owing to sclerosing encapsulating peritonitis (SEP). Radiologic imaging studies revealed bilateral enlarged kidneys with multiple eggshell calcified cysts and some hepatic cysts, which suggested ADPKD. He underwent left nephrectomy, and pathological tests revealed ACKD-associated renal cell carcinoma (RCC) confined to the resected kidney. He was treated with steroids for SEP, and the symptoms resolved. We herein report a case of ACKD-resembling ADPKD-that progressed to RCC in a patient with concurrent SEP who had been undergoing CAPD for 15 years.
Abdominal Pain ; Adult ; Carcinoma, Renal Cell* ; Emergencies ; Humans ; Kidney ; Kidney Diseases, Cystic ; Kidney Failure, Chronic ; Mitral Valve Prolapse ; Nausea ; Nephrectomy ; Peritoneal Dialysis, Continuous Ambulatory* ; Peritonitis* ; Polycystic Kidney, Autosomal Dominant ; Renal Dialysis ; Renal Insufficiency, Chronic ; Seminal Vesicles ; Steroids ; Vomiting

Multicystic dysplastic kidney (MCDK) is an incidental finding on prenatal ultrasound examination and this abnormality may be unilateral or bilateral. In approximately 20-50 % of case, there are also abnormalities of the contralateral kidney which should also be evaluated. These abnormalities are mostly bilateral MCDK, vesicoureteral reflux, ureteropelvic junction obstruction or renal agenesis. Unilateral MCDK and contralateral polycystic kidney are very rare congenital anomalies. We experienced 33-year-old multigravida with left MCDK and severe oligohydramnios at 18 weeks gestation. The evaluation of right kidney is difficult due to severe oligohydramnios. After amnioinfusion, the fetus showed enlarged and hyperechoic right kidney. We report a case of unilateral MCDK and contralateral polycystic kidney diagnosed by ultrasonography after amnioinfusion and confirmed by autopsy.
Adult ; Congenital Abnormalities ; Female ; Fetus ; Humans ; Incidental Findings ; Kidney ; Kidney Diseases ; Multicystic Dysplastic Kidney ; Oligohydramnios ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Recessive ; Pregnancy ; Vesico-Ureteral Reflux

Multicystic dysplastic kidney is the most frequent cause of abdominal mass in the neonate, but its presentation is variable depending on the size of cystic kidney, state of the opposite kidney and associated anomalies. multicystic dysplastic kidney also represents a spectrum of pathology from unilateral multicystic kidney through segmental and focal multicystic dysplasia to bilateral multicystic kidney. Herein we report 5 cases of MCK with different presentation and histology, a bilateral MCK associated with horseshoe kidney, a large MCK with uremia, a focal segmental MCK with contralateral UPJ obstruction, a small focal segmental MCK with contralateral megaureter and a small MCK detected by ultrasonogram for localization of impalpable testis.
Humans ; Infant, Newborn ; Kidney ; Kidney Diseases, Cystic ; Multicystic Dysplastic Kidney* ; Pathology ; Testis ; Ultrasonography ; Uremia

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

PURPOSE: This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography METHODS: There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical records retrospectively. RESULTS: The order of incidence was hydronephrosis, multicystic dysplastic kidney (MCDK), duplex kidney, vesico-ureteral reflux (VUR), single kidney, hydroureteronephrosis, ectopic kidney, polycystic kidney, ureterocele, and posterior urethral valve (PUV). There were 520 cases (57.4%) of hydronephrosis, and 20% of these needed an operation due to significant obstruction. MCDK was associated with other CAKUT in 25.4% of all cases. Approximately 57.9% of duplex kidney cases needed surgical treatment due to ureterocele and VUR. VUR had a male: female ratio of 10:1. Two out of seven cases of autosomal recessive polycystic kidney had progressed to chronic renal failure. Patients with PUV were relatively uncommon, and one out of nine cases progressed to end-stage renal disease. CONCLUSION: CAKUTs detected by prenatal ultrasonography were composed of various anomalies, and almost all of them had a good outcome without any intervention. However, in some cases, recurrent urinary tract infection or renal failure occurred, especially in bilateral cases. For further management, a long-term multicenter study is needed to investigate the precise incidence and outcome of each anomaly in the general population.
Female ; Humans ; Hydronephrosis ; Incidence ; Kidney ; Kidney Failure, Chronic ; Medical Records ; Multicystic Dysplastic Kidney ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Recessive ; Renal Insufficiency ; Retrospective Studies ; Ultrasonography, Prenatal ; Ureterocele ; Urinary Tract ; Urinary Tract Infections ; Vesico-Ureteral Reflux