Glomerulocystic kidney disease presenting as acute renal failure in an adult patient

University of São Paulo, San Paulo, São Paulo, Brazil
Nephrology Dialysis Transplantation (Impact Factor: 3.58). 11/2005; 20(10):2293. DOI: 10.1093/ndt/gfh995
Source: PubMed

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    ABSTRACT: Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney (GCK) refers to a kidney with greater than 5% cystic glomeruli. Although usually a disease of the young, GCK also occurs in adults. To assess the recent molecular genetics of GCK, review our files, revisit the literature, and perform in silico experiments. We retrieved 20 cases from our files and identified more than 230 cases published in the literature under several designations. Although GCK is at least in part a variant of autosomal dominant or recessive polycystic kidney disease (PKD), linkage analysis has excluded PKD-associated gene mutations in many cases of GCK. A subtype of familial GCK, presenting with cystic kidneys, hyperuricemia, and isosthenuria is due to uromodullin mutations. In addition, the familial hypoplastic variant of GCK that is associated with diabetes is caused by mutations in TCF2, the gene encoding hepatocyte nuclear factor-1beta. The term GCK disease (GCKD) should be reserved for the latter molecularly recognized/inherited subtypes of GCK (not to include PKD). Review of our cases, the literature, and our in silico analysis of the overlapping genetic entities integrates established molecular-genetic functions into a proposed model of glomerulocystogenesis; a classification scheme emerged that (1) emphasizes the clinical significance of glomerular cysts, (2) provides a pertinent differential diagnosis, and (3) suggests screening for probable mutations.
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    ABSTRACT: Cystic renal lesions are commonly encountered in abdominal imaging. Although most cystic renal lesions are benign simple cysts, complex renal cysts, infectious cystic renal disease, and multifocal cystic renal disease are also common phenomena. The Bosniak classification system provides a useful means of categorizing cystic renal lesions but places less emphasis on their underlying pathophysiology. Cystic renal diseases can be categorized as focal, multifocal, or infectious lesions. Diseases that manifest with focal lesions, such as cystic renal cell carcinoma, mixed epithelial and stromal tumor, and cystic nephroma, are often difficult to differentiate but have differing implications for follow-up after resection. Multifocal cystic renal lesions can be categorized as acquired or heritable. Acquired entities, such as glomerulocystic kidney disease, lithium-induced nephrotoxicity, acquired cystic kidney disease, multicystic dysplastic kidney, and localized cystic renal disease, often have distinct imaging and clinical features that allow definitive diagnosis. Heritable diseases, such as autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis, are usually easily identified and have various implications for patient management. Infectious diseases have varied imaging appearances, and the possibility of infection must not be overlooked when assessing a cystic renal lesion. A thorough understanding of the spectrum of cystic renal disease will allow the radiologist to make a more specific diagnosis and provide the clinician with optimal recommendations for further diagnostic testing and follow-up imaging. (©)RSNA, 2015.
    No preview · Article · Jan 2015 · Radiographics
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    ABSTRACT: The patient was a 28-year-old man with chronic kidney disease in stage 5 and in the course of chronic membranoroliferative glomerulonephritis. The patient was treated for a period of 2 months using peritoneal dialysis. In September 2014, he had a kidney transplant from a deceased donor. Four months after transplantation the patient was admitted to the hospital for a protocol biopsy. His creatinine was 1.5 mg/dL and urea was 59 mg/dL, urinalysis was normal in blood count with a normocytic anemia-hemoglobin level of 7.8 mmol/L. We obtained a histopathological evaluation of the cortex and medulla of the kidney. Glomeruli dilatation of Bowman space with reduced glomerular capillary tufts was found in the section. Histopathological evaluation indicated gromerulocystic kidney disease in a transplanted kidney.
    No preview · Article · Sep 2015 · Transplantation Proceedings