{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:04:30Z","timestamp":1789704270005,"version":"4.0.1"},"reference-count":332,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>Context.<\/jats:italic>\n                    \u2014Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing X-linked, autosomal dominant, and autosomal recessive inheritance. Although mostly monogenic with mendelian inheritance, there are clearly examples of oligogenic inheritance, such as 3 mutations in 2 genes, while the existence of genetic modifiers is perhaps the norm, based on the extent of variable expressivity and the broad spectrum of symptoms.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Objectives.<\/jats:italic>\n                    \u2014To present in the form of a mini review the major known cystic diseases of the kidney for which genes have been mapped or cloned and characterized, with some information on their cellular and molecular biology and genetics, and to pay special attention to commenting on the issues of molecular diagnostics, in view of the genetic and allelic heterogeneity.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Data Sources.<\/jats:italic>\n                    \u2014We used major reviews that make excellent detailed presentation of the various diseases, as well as original publications.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions.<\/jats:italic>\n                    \u2014There is already extensive genetic heterogeneity in the group of cystic diseases of the kidney; however, there are still many more genes awaiting to be discovered that are implicated or mutated in these diseases. In addition, the synergism and interaction among this repertoire of gene products is largely unknown, while a common unifying aspect is the expression of nearly all of them at the primary cilium or the basal body. A major interplay of functions is anticipated, while mutations in all converge in the unifying phenotype of cyst formation.\n                  <\/jats:p>","DOI":"10.5858\/134.4.569","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T12:14:45Z","timestamp":1613132085000},"page":"569-582","source":"Crossref","is-referenced-by-count":30,"title":["Cystic Diseases of the Kidney: Molecular Biology and Genetics"],"prefix":"10.5858","volume":"134","author":[{"given":"Constantinos","family":"Deltas","sequence":"first","affiliation":[{"name":"From the Department of Biological Sciences, Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory","family":"Papagregoriou","sequence":"additional","affiliation":[{"name":"From the Department of Biological Sciences, Laboratory of Molecular and Medical Genetics, University of Cyprus, Nicosia, Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3906","reference":[{"key":"i1543-2165-134-4-569-b1","series-title":"Recent Adv Res Updates","first-page":"291","article-title":"Recent advances in nephrogenetics and molecular diagnostics: are current approaches becoming obsolete?","volume":"9","author":"Deltas, C.","year":"2008","unstructured":"Deltas, C.\n          \n          Recent advances in nephrogenetics and molecular diagnostics: are current approaches becoming obsolete?\n          Recent Adv Res Updates\n          2008. 9:291\u2013310."},{"key":"i1543-2165-134-4-569-b2","series-title":"Cell","first-page":"979","article-title":"The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.","volume":"87","author":"Qian, F.","year":"1996","unstructured":"Qian, F., T. 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Ablation of the Tamm-Horsfall protein gene increases susceptibility of mice to bladder colonization by type 1-fimbriated Escherichia coli.Am J Physiol Renal Physiol2004. 286:F795\u2013F802."},{"key":"i1543-2165-134-4-569-b153","series-title":"J Biol Chem","first-page":"9924","article-title":"Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors.","volume":"276","author":"Pak, J.","year":"2001","unstructured":"Pak, J., Y.Pu, Z. T.Zhang, D. L.Hasty, and X. R.Wu. Tamm-Horsfall protein binds to type 1 fimbriated Escherichia coli and prevents E. coli from binding to uroplakin Ia and Ib receptors.J Biol Chem2001. 276:9924\u20139930."},{"key":"i1543-2165-134-4-569-b154","series-title":"Kidney Int","first-page":"791","article-title":"Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication.","volume":"65","author":"Bates, J. M.","year":"2004","unstructured":"Bates, J. M., H. M.Raffi, and K.Prasadan. et al. Tamm-Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication.Kidney Int2004. 65:791\u2013797."},{"key":"i1543-2165-134-4-569-b155","series-title":"Kidney Int","first-page":"558","article-title":"Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.","volume":"66","author":"Rezende-Lima, W.","year":"2004","unstructured":"Rezende-Lima, W., K. S.Parreira, M.Garcia-Gonzalez, E.Riveira, J. F.Banet, and X. M.Lens. Homozygosity for uromodulin disorders: FJHN and MCKD-type 2.Kidney Int2004. 66:558\u2013563."},{"key":"i1543-2165-134-4-569-b156","series-title":"Wien Klin Wochenschr","first-page":"316","article-title":"The multiple functions of Tamm-Horsfall protein in human health and disease: a mystery clears up.","volume":"117","author":"Weichhart, T.","year":"2005","unstructured":"Weichhart, T., G. J.Zlabinger, and M. D.S\u00e4emann. The multiple functions of Tamm-Horsfall protein in human health and disease: a mystery clears up.Wien Klin Wochenschr2005. 117:316\u2013322."},{"key":"i1543-2165-134-4-569-b157","series-title":"Am J Physiol Renal Physiol","first-page":"F534","article-title":"Tamm-Horsfall protein protects the kidney from ischemic injury by decreasing inflammation and altering TLR4 expression.","volume":"259","author":"El-Achkar, T. M.","year":"2008","unstructured":"El-Achkar, T. M., X-R. R.Wu, M. I.Rauchman, R.McCracken, S.Kiefer, and P. C.Dagher. Tamm-Horsfall protein protects the kidney from ischemic injury by decreasing inflammation and altering TLR4 expression.Am J Physiol Renal Physiol2008. 259:F534\u2013F544."},{"key":"i1543-2165-134-4-569-b158","series-title":"J Immunol","first-page":"2634","article-title":"Tubulointerstitial nephritis and immunologic responses to Tamm-Horsfall protein in rabbits challenged with homologous urine or Tamm-Horsfall protein.","volume":"128","author":"Mayrer, A. R.","year":"1982","unstructured":"Mayrer, A. R., M.Kashgarian, and N. H.Ruddle. et al. Tubulointerstitial nephritis and immunologic responses to Tamm-Horsfall protein in rabbits challenged with homologous urine or Tamm-Horsfall protein.J Immunol1982. 128:2634\u20132642."},{"key":"i1543-2165-134-4-569-b159","series-title":"Biol Pharm Bull","first-page":"405","article-title":"Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.","volume":"31","author":"Takiue, Y.","year":"2008","unstructured":"Takiue, Y., M.Hosoyamada, T.Yokoo, M.Kimura, and T.Shibasaki. Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene.Biol Pharm Bull2008. 31:405\u2013411."},{"key":"i1543-2165-134-4-569-b160","series-title":"J Am Soc Nephrol","first-page":"3006","article-title":"Mutant Tamm-Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.","volume":"16","author":"Choi, S. W.","year":"2005","unstructured":"Choi, S. W., O. H.Ryu, S. J.Choi, I. S.Song, A. J.Bleyer, and T. C.Hart. Mutant Tamm-Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.J Am Soc Nephrol2005. 16:3006\u20133014."},{"key":"i1543-2165-134-4-569-b161","series-title":"Int Immunopharmacol","first-page":"90","article-title":"Intact protein core structure is essential for protein-binding, mononuclear cell proliferating, and neutrophil phagocytosis-enhancing activities of normal human urinary Tamm-Horsfall glycoprotein.","volume":"8","author":"Wu, T-H.","year":"2008","unstructured":"Wu, T-H., S-C.Hsieh, C-Y.Yu, Y-F.Lee, C-Y.Tsai, and C-L.Yu. Intact protein core structure is essential for protein-binding, mononuclear cell proliferating, and neutrophil phagocytosis-enhancing activities of normal human urinary Tamm-Horsfall glycoprotein.Int Immunopharmacol2008. 8:90\u201399."},{"key":"i1543-2165-134-4-569-b162","series-title":"Am J Kidney Dis","first-page":"52","article-title":"A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.","volume":"46","author":"Lens, X. M.","year":"2005","unstructured":"Lens, X. M., J. F.Banet, P.Outeda, and V.Barrio-Lucia. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.Am J Kidney Dis2005. 46:52\u201357."},{"key":"i1543-2165-134-4-569-b163","series-title":"Kidney Int","first-page":"574","article-title":"The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.","volume":"71","author":"Wolf, M. T. F.","year":"2007","unstructured":"Wolf, M. T. F., B. B.Beck, and F.Zaucke. et al. The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.Kidney Int2007. 71:574\u2013581."},{"key":"i1543-2165-134-4-569-b164","series-title":"Kidney Int","first-page":"1155","article-title":"Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN\/\/MCKD syndrome.","volume":"70","author":"Vylet'al, P.","year":"2006","unstructured":"Vylet'al, P., M.Kublova, and M.Kalbacova. et al. 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The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.Cell1996. 87:979\u2013987."},{"key":"i1543-2165-134-4-569-b3","series-title":"Radiographics","first-page":"837","article-title":"Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation.","volume":"20","author":"Lonergan, G. J.","year":"2000","unstructured":"Lonergan, G. J., R. R.Rice, and E. S.Suarez. Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation.Radiographics2000. 20:837\u2013855."},{"key":"i1543-2165-134-4-569-b4","series-title":"J Am Soc Nephrol","first-page":"2508","article-title":"The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia.","volume":"13","author":"Yoder, B. K.","year":"2002","unstructured":"Yoder, B. K., X.Hou, and L. M.Guay-Woodford. 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Increased epithelial cell proliferation and abnormal extracellular matrix in rat polycystic kidney disease.J Am Soc Nephrol1998. 9:937\u2013945."},{"key":"i1543-2165-134-4-569-b11","series-title":"Biochim Biophys Acta","first-page":"647","article-title":"Inhibition of HER-2(neu\/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia.","volume":"1762","author":"Wilson, S. J.","year":"2006","unstructured":"Wilson, S. J., K.Amsler, and D. P.Hyink. et al. Inhibition of HER-2(neu\/ErbB2) restores normal function and structure to polycystic kidney disease (PKD) epithelia.Biochim Biophys Acta2006. 1762:647\u2013655."},{"key":"i1543-2165-134-4-569-b12","series-title":"J Biol Chem","first-page":"4947","article-title":"The polycystic kidney disease 1 gene product modulates Wnt signaling.","volume":"274","author":"Kim, E.","year":"1999","unstructured":"Kim, E., T.Arnould, and L. K.Sellin. et al. The polycystic kidney disease 1 gene product modulates Wnt signaling.J Biol Chem1999. 274:4947\u20134953."},{"key":"i1543-2165-134-4-569-b13","series-title":"Proc Natl Acad Sci U S A","first-page":"6371","article-title":"Interaction between RGS7 and polycystin.","volume":"96","author":"Kim, E.","year":"1999","unstructured":"Kim, E., T.Arnould, and L.Sellin. et al. Interaction between RGS7 and polycystin.Proc Natl Acad Sci U S A1999. 96:6371\u20136376."},{"key":"i1543-2165-134-4-569-b14","series-title":"J Biol Chem","first-page":"11276","article-title":"Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2.","volume":"277","author":"Delmas, P.","year":"2002","unstructured":"Delmas, P., H.Nomura, and X.Li. et al. 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