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At least 19 recordsLinked to original sources
PubMed1991

[Differential diagnosis of cystic kidney dysplasias].

Cystic kidney dysplasias (multicystic kidney disease) are differentiated from hyperplastic and ectatic cystic kidney diseases by means of pathogenesis in order to simplify the common classification. Six cases of cystic kidney dysplasia are reported (1 child and 5 adults) and in a review of the literature diagnostic and therapeutic strategies are discussed. A characteristic radiological sign is the clublike++ deformation of the rudimentary ureter. Nephrectomy is indicated in case of symptoms such as pain, hypertension or recurrent urinary tract infections or in case of atypical cysts with a risk of malignancy.

Adult↗
PubMed2005

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are expressed in sensory organelles called primary cilia, in basal bodies or in centrosomes. Primary cilia link mechanosensory, visual, osmotic, gustatory and other stimuli to mechanisms of cell-cycle control and epithelial cell polarity. The ciliary expression of cystoproteins explains why many other organs might be also affected in patients with cystic kidney disease. Protein-protein interactions among cystoproteins, and their strong evolutionary conservation, provide a basis for a multidisciplinary approach to unravelling the novel signalling mechanisms that are involved in this disease group.

Centrosome↗
PubMed1991

Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease.

Cystic kidneys or renal cystic disease is a morphologic description for an etiological heterogeneous group of disorders ranging from solitary cysts to several forms of multicystic and polycystic kidneys. The combination of the examination of the kidneys and liver, clinical data, family history and the presence of associated anomalies is mandatory to obtain a final diagnosis. The use of prenatal ultrasound to monitor pregnancies at risk for autosomal recessive polycystic kidney disease (ARPKD) is limited because a recurrence can be diagnosed early in pregnancy but may not be excluded. For pregnancies at risk for autosomal dominant polycystic kidney disease (ADPKD), a reliable prenatal diagnosis can only be provided by DNA studies after chorionic villus sampling. Cystic kidneys may present as part of different syndromes. An overview is given of the complex differential diagnosis. Dysplastic (multicystic) kidneys often occur unilaterally. In contrast with polycystic kidneys, diseased liver changes are not present in cystic dysplasia and prenatal ultrasound diagnosis is usually possible.

Chorionic Villi Sampling↗
PubMed2006

Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.

Cystic kidney diseases (CKDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive fibrocystic renal and hepatobiliary changes. Recent findings have proven the cystogenic process to be compatible with cellular dedifferentiation, i. e. increased apoptosis and proliferation rates, altered protein sorting and secretory characteristics, as well as disorganization of the extracellular matrix. Compelling evidence suggests that cilia play a central pathogenic role and most cystic kidney disorders converge into a common pathogenic pathway. Recently, several promising trials have further extended our understanding of the pathophysiology of CKD and may have the potential for rational personalized therapies in future years. This review aims to summarize the current state of knowledge of the structure and function of proteins underlying polycystic kidney disease, to explore the clinical consequences of changes in respective genes, and to discuss potential therapeutic approaches.

Genotype↗
PubMed2006

Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease.

Significant progress in understanding the molecular mechanisms of polycystic kidney disease (PKD) has been made in recent years. Translating this understanding into effective therapeutics will require testing in animal models that closely resemble human PKD by multiple parameters. Similar to autosomal dominant PKD, juvenile cystic kidney (jck) mice develop cysts in multiple nephron segments, including cortical collecting ducts, distal tubules, and loop of Henle. The jck mice display gender dimorphism in kidney disease progression with more aggressive disease in male mice. Gonadectomy experiments show that testosterone aggravates the severity of the disease in jck male mice, while female gonadal hormones have protective effects. EGF receptor is overexpressed and mislocalized in jck cystic epithelia, a hallmark of human disease. Increased cAMP levels in jck kidneys and activation of the B-Raf/extracellular signal-regulated kinase pathway are demonstrated. The effect of jck mutation on the expression of Nek8, a NIMA-related (never in mitosis A) kinase, and polycystins in jck cilia is shown for the first time. Nek8 overexpression and loss of ciliary localization in jck epithelia are accompanied by enhanced expression of polycystins along the cilia. The primary cilia in jck kidneys are significantly more lengthened than the cilia in wild-type mice, suggesting a role for Nek8 in controlling ciliary length. Collectively, these data demonstrate that the jck mice should be useful for testing potential therapies and for studying the molecular mechanisms that link ciliary structure/function and cystogenesis.

Animals↗
PubMed1997

Late occurrence of cysts in autosomal dominant medullary cystic kidney disease.

Medullary cystic kidney disease (MCD) is characterized by multiple renal cysts at the corticomedullary boundary area, by autosomal dominant inheritance, and by onset of chronic renal failure in the third decade of life. We report on a family with three affected individuals of both sexes in two generations presenting with end-stage renal failure at age 22-31 years. Primarily diagnoses considered included unclassified hereditary nephropathy and autosomal dominant polycystic kidney disease. Careful evaluation of all findings, initiated after investigation of renal morphology with CT, revealed features characteristic for MCD and led to the final diagnosis of MCD. We conclude that MCD is an important differential diagnosis for polycystic kidney disease in young adults with end-stage renal failure. Establishing the correct diagnosis has considerable impact for genetic counselling.

Adult↗
PubMed2003

Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.

BACKGROUND: Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single disease complex (NPH-MCD). However, since the recent localization of two genes responsible for ADMCKD, namely MCKD1 and MCKD2, ADMCKD has gained independent status. Unfortunately, there appears to be a distinct lack of up-to-date information in the currently available medical literature concerning worldwide patient and graft survival after renal transplantation in ADMCKD. This report is based on all 41 transplanted patients [19 suffering from autosomal dominant medullary cystic kidney disease type 1 (ADMCKD1) and 22 from other causes] who were referred for kidney transplantation from our centre in Pafos, Cyprus between 1976 and 2000. All patients had regular follow-up examinations. This report aims to present the results of kidney transplantation of the 19 ADMCKD1 patients and to compare them with those for the 22 non-ADMCKD patients. METHODS: Patient and graft survival times in both groups were recorded, analysed and compared 1 and 5 years post-transplant. Patient and graft survival times were calculated according to the Kaplan-Meier method and some descriptive statistical comparisons were based on the chi(2)-test. RESULTS: The 1 year patient and graft survival rates for ADMCKD1 (group A) were 100%, while the 5 year figures were 100% and 90%, respectively. For non-ADMCKD1 patients (group B) the 1 year figures were 95% for both parameters, while the 5 year figures were 93.3% for both parameters. There were no statistically significant differences in patient and graft survival times between the two groups. CONCLUSIONS: Kidney transplantation is the treatment of choice for patients suffering from ADMCKD, with an excellent outcome and no specific complications.

Adult↗
PubMed2000

Acquired cystic kidney disease.

Acquired cystic kidney disease (ACKD), also known as acquired renal cystic disease (ARCD,) occurs in patients who are on dialysis for end-stage renal disease. It is generally accepted that ACKD develops as a consequence of sustained uremia and can first manifest even before dialysis is initiated while the patient is still in chronic renal failure. The role of immune suppression, particularly in transplant recipients, in the development of ACKD, is still under investigation. The prevalence of ACKD is directly related to the duration of dialysis and the risk of cancer is directly related to the presence of cysts. Herein we review the current understanding of the pathophysiology and imaging implications of ACKD.

Diagnostic Imaging↗
PubMed1976

Comparison of human polycystic and medullary cystic kidney disease with diphenylamine-induced cystic disease.

Because of difficulty in obtaining cystic human kidneys for functional and morphologic study, animal models are receiving increasing attention. Most prominent among them is the renal cystic disease that is induced in rats through feeding of the antioxidant, diphenylamine, The present study examined the morphology of adult polycystic and medullary cystic kidney disease in man using scanning electron microscopy and compared them with diphenylamine-induced cystic kidney disease in rats. Diphenylamine nephropathy was induced by feeding rats 1 per cent diphenylamine for 12 to 18 months. All types of cystic disease showed changes in the renal corpuscles, including dilation of Bowman's space, podocyte fusion and degeneration, and basement membrane thickening. Cysts were noted along the entire nephron in polycystic and diphenylamine-induced cystic disease but only along the collecting ducts in medullary cystic disease. Cysts in polycystic disease were large and lined by flattened epithelium. Collecting duct cysts in diphenylamine cystic disease were lined by cells of irregular size and shape suggestive of cell hypertrophy and/or hyperplasia, whereas cysts of medullary cystic disease were lined by flattened epithelium except where the nephron entered or left the cyst. Cast material was generally found in the cysts of diphenylamine-induced and polycystic kidney disease but not medullary cystic disease. Atrophic glomeruli and tubules were found in all three diseases. Complete tubular obstruction was found in none; however, larger cysts frequently impinged on adjacent tubules and narrowed their lumina. The results of this study show that, in the terminal stages, cellular as well as gross morphologic differences exist between polycystic and medullary cystic kidney disease and that diphenylamine-induced cystic disease more closely resembles human polycystic than medullary cystic kidney disease.

Aniline Compounds↗
PubMed1976

Extrarenal manifestations of cystic kidney disease.

Cystic disorders of the kidney may manifest their presence not only through renal but also through systemic signs and symptoms. Extrarenal manifestations include cerebral aneurysms, hepatic cysts, hepatic fibrosis, polycythemia, and retinal changes. Awareness of such associations strengthens the likelihood that renal cystic disease will be detected in its earlier stages. Involvement of organs other than the kidneys takes on added significance as the lives of affected individuals are prolonged through dialysis and renal transplantation.

Adolescent↗
PubMed1990

The role of ischemia in acquired cystic kidney disease.

Acquired cystic kidney disease (ACKD) is the result of cyst formation in failing noncystic kidneys. This condition occurs in patients with chronic renal failure and becomes more common with increasing time on renal replacement therapy. Its complications include hemorrhage and tumor formation, which have acquired greater significance as more patients are started on dialysis treatment. The causes of ACKD remain speculative thus far. Its occurrence in nondialyzed patients suggests that dialysis itself is not a necessary factor in its pathogenesis. Five cases of severe unilateral renovascular disease and associated cyst formation are reported. The authors conclude that ACKD may derive from primary renovascular occlusion or from the secondary arterial and arteriolar occlusions seen in the end-stage kidney.

Aged↗
PubMed1994

Renal cancer complicating acquired cystic kidney disease.

Acquired cystic kidney disease (ACKD) occurs in the setting of prolonged azotemia and is therefore common in dialysis patients. It is characterized by epithelial proliferation, and its major complication is the development of renal cancer. The incidence of renal cancer is significantly increased in ACKD patients and is probably increased overall in the ESRD population as well. Those ESRD patients with suspicious symptoms, prolonged predialysis azotemia, or a dialysis duration of longer than 3 yr, or those who are candidates for a renal transplant should be screened for ACKD. Sonography or computed tomographic scanning are useful as initial screening tools. However, although more expensive and requiring contrast administration, the contrast-enhanced computed tomographic scan is the definitive imaging procedure by which to initially evaluate a renal mass. A suspicious renal mass is a patient who is a surgical candidate is an indication for a radical nephrectomy.

Carcinoma, Papillary↗
PubMedDate not supplied

Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.

Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, which has been referred to as the NPH-MCKD complex. Although MCKD and NPH share morphological features, they differ in several respects. The most common variant is recessive juvenile NPH, with onset in childhood and leading to end-stage renal disease (ESRD) within the 2nd decade of life; the most frequent extrarenal involvement is tapeto-retinal degeneration. MCKD is a dominant condition recognized in later life and leading to ESRD at the age of 50 years; hyperuricemia and gout can be associated features. The first sign of MCKD is polyuria; later, the clinical findings relate to renal insufficiency. Originally, NPH and MCKD were considered separate entities. Subsequently, it has been suggested that the two diseases were a single disorder due to the clinico-pathological identity. This unifying conception was later refuted due to the identification of MCKD dominant families. Recently, considerable insight has been gained into the genetics of the NPH-MCKD complex. The majority of juvenile NPH cases are due to deletion of the NPHP1 gene on chromosome 2q13. Genes for infantile and adolescent NPH have been localized respectively to chromosome 9q22-q31 and 3q22. A new locus, NPHP4, has been recently identified on chromosome 1p36. Two genes predisposing to dominant MCKD, MCKD1 and MCKD2, have been localized to chromosome 1q21 and 16p12. Independent confirmation of the locations of MCKD1 and MCKD2 in other MCKD families, with or without hyperuricemia and gout, has been reported. The gene for familial juvenile hyperuricemic nephropathy (FJHN), a phenotype that is very similar to MCKD, was recently mapped to 16p12, in a region overlapping with the MCKD2 locus, raising the question as to whether MCKD2 and FJHN are allelic variants of the same disease entity. The ultimate proof of the allelism between MCKD2 and FJHN will be provided by the identification of the responsible gene(s). Identification and characterization of the MCKD and FJHN genes will help to clarify the pathogenesis and classification of hereditary tubulo-interstitial nephritides.

Humans↗