{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T09:26:51Z","timestamp":1777973211635,"version":"3.51.4"},"reference-count":244,"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                    \u2014Renal cystic diseases and congenital abnormalities of the kidney and urinary tract comprise a heterogeneous group of lesions whose pathogenesis has eluded physicians for centuries. Recent advances in molecular and genetic understanding of these diseases may provide the solution to this riddle.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Objective.<\/jats:italic>\n                    \u2014The formulation of an effective classification system for these disorders has been elusive but is needed to introduce order while providing a conceptual framework for diagnosis.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Data sources.<\/jats:italic>\n                    \u2014This review discusses the evolution, beginning in the 19th century, of postulates regarding the pathogenesis of cystic and developmental renal diseases. Selected classification systems proffered during this period are discussed in pursuit of an ideal classification schema that would account for morphologic features and their clinical importance, with logical links to pathogenesis and treatment. Although this remains an elusive target, its general outline is becoming clearer. A classification approach favored by the author is presented, which incorporates many of the strengths contained in several previous classifications.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions.<\/jats:italic>\n                    \u2014Genetic-and molecular-based postulates regarding the pathogenesis of the renal cystic and developmental diseases have implicated mutated master genes and the modification of genes that are crucial in renal development and genes that are central to the sensory effects of the renal tubular primary cilium on cell physiology. These scientific advances provide pathogenetic links between morphologically and genetically distinct entities and certain cystic and neoplastic entities, associations that seemed implausible not long ago. These advances may eventually provide the basis for future classification systems while suggesting targets for therapeutic approaches in the prevention and treatment of these diseases.\n                  <\/jats:p>","DOI":"10.5858\/134.4.554","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T12:14:29Z","timestamp":1613132069000},"page":"554-568","source":"Crossref","is-referenced-by-count":37,"title":["The Classification of Renal Cystic Diseases and Other Congenital Malformations of the Kidney and Urinary Tract"],"prefix":"10.5858","volume":"134","author":[{"given":"Stephen M.","family":"Bonsib","sequence":"first","affiliation":[{"name":"From the Department of Pathology, Louisiana State University Health Sciences Center, Shreveport"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3906","reference":[{"key":"i1543-2165-134-4-554-b1","article-title":"Report from the paediatric renal registry.","author":"Lewis, M. 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M.\n          \n          Fetal obstructive uropathy without renal dysplasia: a study of the renal findings in 13 cases presenting with megacystis.\n          J Urol\n          1998. 160:(6, pt 1). 2166\u20132170."},{"issue":"1","key":"i1543-2165-134-4-554-b57","series-title":"Kidney Int","first-page":"21","article-title":"Development of human kidney in obstructive uropathy: correlations with ultrasonography and urine biochemistry.","volume":"52","author":"Da\u00efkha-Dahmane, F.","year":"1997","unstructured":"Da\u00efkha-Dahmane, F., M.Dommesmrgues, and F.Muller. et al. Development of human kidney in obstructive uropathy: correlations with ultrasonography and urine biochemistry.Kidney Int1997. 521:21\u201332."},{"issue":"12","key":"i1543-2165-134-4-554-b58","series-title":"Mod Pathol","first-page":"1233","article-title":"Renal maldevelopment: a pediatric renal biopsy study.","volume":"10","author":"Bonsib, S. M.","year":"1997","unstructured":"Bonsib, S. M. and P.Koontz. 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The pathogenesis of multicystic dysplastic kidney disease: insights from the study of fetal kidneys.Lab Invest1996. 745:883\u2013893."},{"issue":"2","key":"i1543-2165-134-4-554-b61","series-title":"Hum Genet","first-page":"104","article-title":"Cystic kidneys: genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.","volume":"68","author":"Zerres, K.","year":"1984","unstructured":"Zerres, K., M. C.V\u00f6lpel, and H.Weiss. Cystic kidneys: genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.Hum Genet1984. 682:104\u2013135."},{"issue":"4","key":"i1543-2165-134-4-554-b62","series-title":"Am J Kidney Dis","first-page":"535","article-title":"Renal dysplasia: new approaches to an old problem.","volume":"32","author":"Matsell, D. G.","year":"1998","unstructured":"Matsell, D. G.\n          \n          Renal dysplasia: new approaches to an old problem.\n          Am J Kidney Dis\n          1998. 324:535\u2013543."},{"issue":"4","key":"i1543-2165-134-4-554-b63","series-title":"Semin Nephrol","first-page":"341","article-title":"Cystic maldevelopment of the kidney.","volume":"15","author":"Orellana, S. A.","year":"1995","unstructured":"Orellana, S. A. and E. D.Avner. Cystic maldevelopment of the kidney.Semin Nephrol1995. 154:341\u2013352."},{"issue":"2","key":"i1543-2165-134-4-554-b64","series-title":"Virchows Arch A Path Anat and Histol","first-page":"167","article-title":"The malformations of the urinary system in autosomal disorders.","volume":"368","author":"Kravtzova, G. I.","year":"1975","unstructured":"Kravtzova, G. I., G. I.Lazjuk, and I. W.Lurie. The malformations of the urinary system in autosomal disorders.Virchows Arch A Path Anat and Histol1975. 3682:167\u2013178."},{"issue":"6","key":"i1543-2165-134-4-554-b65","series-title":"Pediatr Clin North Am","first-page":"1319","article-title":"Congenital nephropathies and uropathies.","volume":"42","author":"Becker, N.","year":"1995","unstructured":"Becker, N. and E. D.Avner. Congenital nephropathies and uropathies.Pediatr Clin North Am1995. 426:1319\u20131341."},{"issue":"2","key":"i1543-2165-134-4-554-b66","series-title":"J Am Soc Nephrol","first-page":"127","article-title":"Determinants of epithelial differentiation during early nephrogenesis.","volume":"1","author":"Brenner, B. M.","year":"1990","unstructured":"Brenner, B. M.\n          \n          Determinants of epithelial differentiation during early nephrogenesis.\n          J Am Soc Nephrol\n          1990. 12:127\u2013139."},{"key":"i1543-2165-134-4-554-b67","article-title":"The Time Machine.","author":"Wells, H. G.","unstructured":"Wells, H. G.\n          \n          The Time Machine.\n          London, England: William Heinemann; 1895. Serialized in: New Rev. 1894\u20131895."},{"issue":"7","key":"i1543-2165-134-4-554-b68","series-title":"Ann Intern Med","first-page":"510","article-title":"Clinical spectrum associated with hepatocyte nuclear factor-1\u03b2 mutations.","volume":"140","author":"Bellann\u00e9-Chantelot, C.","year":"2004","unstructured":"Bellann\u00e9-Chantelot, C., D.Chauveau, and J. F.Gautier. et al. Clinical spectrum associated with hepatocyte nuclear factor-1\u03b2 mutations.Ann Intern Med2004. 1407:510\u2013517."},{"issue":"1","key":"i1543-2165-134-4-554-b69","series-title":"J Med Genet","first-page":"84","article-title":"Mutations in hepatocyte nuclear factor-1\u03b2 and their related phenotypes.","volume":"43","author":"Edghill, E. L.","year":"2006","unstructured":"Edghill, E. L., C.Bingham, S.Ellard, and A. T.Hattersley. Mutations in hepatocyte nuclear factor-1\u03b2 and their related phenotypes.J Med Genet2006. 431:84\u201390."},{"issue":"2","key":"i1543-2165-134-4-554-b70","series-title":"J Am Soc Nephrol","first-page":"497","article-title":"Renal phenotypes related to hepatocyte nuclear factor-1\u03b2 (TCF2) mutations in a pediatric cohort.","volume":"17","author":"Ulinski, T.","year":"2006","unstructured":"Ulinski, T., S.Lescure, and S.Beaufils. et al. Renal phenotypes related to hepatocyte nuclear factor-1\u03b2 (TCF2) mutations in a pediatric cohort.J Am Soc Nephrol2006. 172:497\u2013503."},{"issue":"1","key":"i1543-2165-134-4-554-b71","series-title":"Am J Hum Genet","first-page":"219","article-title":"Mutations in the hepatocyte nuclear factor-1\u03b2 gene are associated with familial hypoplastic glomerulocystic kidney disease.","volume":"68","author":"Bingham, C.","year":"2001","unstructured":"Bingham, C., M. P.Bulman, and S.Ellard. et al. Mutations in the hepatocyte nuclear factor-1\u03b2 gene are associated with familial hypoplastic glomerulocystic kidney disease.Am J Hum Genet2001. 681:219\u2013224."},{"issue":"3","key":"i1543-2165-134-4-554-b72","series-title":"J Am Soc Nephrol","first-page":"923","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.","volume":"18","author":"Decramer, S.","year":"2007","unstructured":"Decramer, S., O.Parant, and S.Beaufils. et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.J Am Soc Nephrol2007. 183:923\u2013933."},{"issue":"3","key":"i1543-2165-134-4-554-b73","series-title":"Kidney Int","first-page":"898","article-title":"Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1\u03b2.","volume":"57","author":"Bingham, C.","year":"2000","unstructured":"Bingham, C., S.Ellard, and L.Allen. et al. 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A common variant of the PAX2 gene is associated with reduced newborn kidney size.J Am Soc Nephrol2007. 186:1915\u20131921."},{"issue":"1","key":"i1543-2165-134-4-554-b84","series-title":"Kidney Int","first-page":"10","article-title":"Toward an etiological classification of developmental disorders of the kidney and upper urinary tract.","volume":"61","author":"Pohl, M.","year":"2002","unstructured":"Pohl, M., V.Bhatnagar, S. A.Mendoza, and S. K.Nigam. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract.Kidney Int2002. 611:10\u201319."},{"issue":"4","key":"i1543-2165-134-4-554-b85","series-title":"J Am Soc Nephrol","first-page":"667","article-title":"GUDMAP: the genitourinary developmental molecular anatomy project.","volume":"19","author":"McMahon, A. P.","year":"2008","unstructured":"McMahon, A. P., B. J.Aronow, and D. R.Davidson. et al. 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Mutations in the hepatocyte nuclear factor-1\u03b2 gene are associated with familial hypoplastic glomerulocystic kidney disease.Am J Hum Genet2001. 681:219\u2013224."},{"issue":"1","key":"i1543-2165-134-4-554-b101","series-title":"Kidney Int","first-page":"10","article-title":"Towards an etiological classification of developmental disorders of the kidney and upper urinary tract.","volume":"61","author":"Pohl, M.","year":"2002","unstructured":"Pohl, M., V.Bhatnagar, S. A.Mendoza, and S. K.Nigam. Towards an etiological classification of developmental disorders of the kidney and upper urinary tract.Kidney Int2002. 611:10\u201319."},{"issue":"10","key":"i1543-2165-134-4-554-b102","series-title":"Pediatr Nephrol","first-page":"1369","article-title":"Renal cystic diseases: diverse phenotypes converge on the cilium\/centrosome complex.","volume":"21","author":"Guay-Woodford, L. M.","year":"2006","unstructured":"Guay-Woodford, L. 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P.\n          \n          Polycystic disease of the kidney: a review.\n          Arch Pathol\n          1947. 44:34."},{"issue":"1","key":"i1543-2165-134-4-554-b35","series-title":"J Pathol Bacteriol","first-page":"51","article-title":"The morphogenesis of renal cysts in the stillborn studied by micro-dissection technique.","volume":"71","author":"Bialestock, D.","year":"1956","unstructured":"Bialestock, D.\n          \n          The morphogenesis of renal cysts in the stillborn studied by micro-dissection technique.\n          J Pathol Bacteriol\n          1956. 711:51\u201359."},{"issue":"213","key":"i1543-2165-134-4-554-b36","series-title":"Arch Dis Child","first-page":"455","article-title":"Cysts arising in the renal corpuscle: a microdissection study.","volume":"40","author":"Baxter, T. J.","year":"1965","unstructured":"Baxter, T. 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Development of the human kidney as shown by microdissection, III: formation and interrelationship of collecting tubules and nephrons.Arch Pathol1963. 76:290\u2013302."},{"issue":"5","key":"i1543-2165-134-4-554-b39","series-title":"Arch Pathol","first-page":"391","article-title":"Development of the human kidney as shown by microdissection, IV: development of tubular portions of nephrons.","volume":"82","author":"Osathanondh, V.","year":"1966","unstructured":"Osathanondh, V. and E. L.Potter. Development of the human kidney as shown by microdissection, IV: development of tubular portions of nephrons.Arch Pathol1966. 825:391\u2013402."},{"issue":"5","key":"i1543-2165-134-4-554-b40","series-title":"Arch Pathol","first-page":"403","article-title":"Development of the human kidney as shown by microdissection, V: development of vascular pattern of glomeruli.","volume":"82","author":"Osathanondh, V.","year":"1966","unstructured":"Osathanondh, V. and E. L.Potter. Development of the human kidney as shown by microdissection, V: development of vascular pattern of glomeruli.Arch Pathol1966. 825:403\u2013411."},{"key":"i1543-2165-134-4-554-b41","series-title":"Arch Pathol","first-page":"466","article-title":"Pathogenesis of polycystic kidneys type 1 due to hyperplasia of interstitial portions of collecting tubules.","volume":"77","author":"Osathanondh, V.","year":"1964","unstructured":"Osathanondh, V. and E. L.Potter. Pathogenesis of polycystic kidneys type 1 due to hyperplasia of interstitial portions of collecting tubules.Arch Pathol1964. 77:466\u2013473."},{"key":"i1543-2165-134-4-554-b42","series-title":"Arch Pathol","first-page":"474","article-title":"Pathogenesis of polycystic kidneys type 2 due to inhibition of ampullary activity.","volume":"77","author":"Osathanondh, V.","year":"1964","unstructured":"Osathanondh, V. and E. L.Potter. Pathogenesis of polycystic kidneys type 2 due to inhibition of ampullary activity.Arch Pathol1964. 77:474\u2013484."},{"key":"i1543-2165-134-4-554-b43","series-title":"Arch Pathol","first-page":"484","article-title":"Pathogenesis of polycystic kidneys type 3 due to multiple abnormalities of development.","volume":"77","author":"Osathanondh, V.","year":"1964","unstructured":"Osathanondh, V. and E. L.Potter. Pathogenesis of polycystic kidneys type 3 due to multiple abnormalities of development.Arch Pathol1964. 77:484\u2013501."},{"key":"i1543-2165-134-4-554-b44","series-title":"Arch Pathol","first-page":"502","article-title":"Pathogenesis of polycystic kidneys type 4 due to urethral obstruction.","volume":"77","author":"Osathanondh, V.","year":"1964","unstructured":"Osathanondh, V. and E. L.Potter. Pathogenesis of polycystic kidneys type 4 due to urethral obstruction.Arch Pathol1964. 77:502\u2013509."},{"key":"i1543-2165-134-4-554-b45","series-title":"Arch Pathol","first-page":"459","article-title":"Pathogenesis of polycystic kidneys: historical survey.","volume":"77","author":"Osathanondh, V.","year":"1964","unstructured":"Osathanondh, V. and E. L.Potter. Pathogenesis of polycystic kidneys: historical survey.Arch Pathol1964. 77:459\u2013465."},{"key":"i1543-2165-134-4-554-b46","article-title":"Cystic kidneys: age distribution and r\u00e9sum\u00e9 of pathogenesis.","author":"Potter, E. L.","unstructured":"Potter, E. L.\n          \n          Cystic kidneys: age distribution and r\u00e9sum\u00e9 of pathogenesis.\n          In: Normal and Abnormal Development of the Kidney. Chicago, IL: Year Book Medical Publishers, Inc; 1972:289\u2013295."},{"issue":"2","key":"i1543-2165-134-4-554-b47","series-title":"Pediatr Clin North Am","first-page":"395","article-title":"The morphogenesis of renal parenchymal maldevelopment (renal dysplasia).","volume":"18","author":"Bernstein, J.","year":"1971","unstructured":"Bernstein, J.\n          \n          The morphogenesis of renal parenchymal maldevelopment (renal dysplasia).\n          Pediatr Clin North Am\n          1971. 182:395\u2013407."},{"key":"i1543-2165-134-4-554-b48","series-title":"Pathol Annu","first-page":"213","article-title":"Developmental abnormalities of the renal parenchyma\u2014renal hypoplasia and dysplasia.","volume":"2","author":"Bernstein, J.","year":"1968","unstructured":"Bernstein, J.\n          \n          Developmental abnormalities of the renal parenchyma\u2014renal hypoplasia and dysplasia.\n          Pathol Annu\n          1968. 2:213\u2013247."},{"key":"i1543-2165-134-4-554-b49","series-title":"Pathol Annu","first-page":"139","article-title":"Renal dysplasia: a review.","volume":"2","author":"Taxy, J. B.","year":"1985","unstructured":"Taxy, J. B.\n          \n          Renal dysplasia: a review.\n          Pathol Annu\n          1985. 2:(pt 2). 139\u2013159."},{"issue":"6","key":"i1543-2165-134-4-554-b50","series-title":"J Urol","first-page":"784","article-title":"The effect of intra-uterine urinary obstruction upon the development of the fetal kidney.","volume":"105","author":"Beck, A. D.","year":"1971","unstructured":"Beck, A. D.\n          \n          The effect of intra-uterine urinary obstruction upon the development of the fetal kidney.\n          J Urol\n          1971. 1056:784\u2013788."},{"issue":"5","key":"i1543-2165-134-4-554-b51","series-title":"J Urol","first-page":"1091","article-title":"The role of urinary obstruction in the genesis of renal dysplasia: a model in the chick embryo.","volume":"128","author":"Berman, D. J.","year":"1982","unstructured":"Berman, D. J. and M.Maizels. The role of urinary obstruction in the genesis of renal dysplasia: a model in the chick embryo.J Urol1982. 1285:1091\u20131096."},{"issue":"2","key":"i1543-2165-134-4-554-b52","series-title":"Kidney Int","first-page":"111","article-title":"Cystic changes in fetal kidneys following ureteral ligation: studies by microdissection.","volume":"5","author":"Fetterman, G. H.","year":"1974","unstructured":"Fetterman, G. H., M. M.Ravitch, and F. E.Herman. Cystic changes in fetal kidneys following ureteral ligation: studies by microdissection.Kidney Int1974. 52:111\u2013118."},{"key":"i1543-2165-134-4-554-b53","series-title":"J Urol","first-page":"646","article-title":"Urinary obstruction reduces glomerulogenesis in the developing kidney: a model in the rabbit.","volume":"142","author":"McVary, K. T.","year":"1989","unstructured":"McVary, K. T. and M.Maizels. Urinary obstruction reduces glomerulogenesis in the developing kidney: a model in the rabbit.J Urol1989. 142:(2, pt 2). 646\u2013651."},{"key":"i1543-2165-134-4-554-b54","series-title":"J Urol","first-page":"503","article-title":"The response of the fetal kidney to obstruction.","volume":"148","author":"Peters, C. A.","year":"1992","unstructured":"Peters, C. A., M. C.Carr, A.Lais, A. B.Retik, and J.Mandell. The response of the fetal kidney to obstruction.J Urol1992. 148:(2, pt 2). 503\u2013509."},{"key":"i1543-2165-134-4-554-b55","series-title":"Fetal Ther","first-page":"118","article-title":"Development of fetal lamb lung and kidney in obstructive uropathy: a preliminary report.","volume":"3","author":"Pringle, K. C.","year":"1988","unstructured":"Pringle, K. C. and S. M.Bonsib. Development of fetal lamb lung and kidney in obstructive uropathy: a preliminary report.Fetal Ther1988. 3:(1\u20132). 118\u2013128."},{"key":"i1543-2165-134-4-554-b56","series-title":"J Urol","first-page":"2166","article-title":"Fetal obstructive uropathy without renal dysplasia: a study of the renal findings in 13 cases presenting with megacystis.","volume":"160","author":"Bonsib, S. M.","year":"1998","unstructured":"Bonsib, S. M.\n          \n          Fetal obstructive uropathy without renal dysplasia: a study of the renal findings in 13 cases presenting with megacystis.\n          J Urol\n          1998. 160:(6, pt 1). 2166\u20132170."},{"issue":"1","key":"i1543-2165-134-4-554-b57","series-title":"Kidney Int","first-page":"21","article-title":"Development of human kidney in obstructive uropathy: correlations with ultrasonography and urine biochemistry.","volume":"52","author":"Da\u00efkha-Dahmane, F.","year":"1997","unstructured":"Da\u00efkha-Dahmane, F., M.Dommesmrgues, and F.Muller. et al. Development of human kidney in obstructive uropathy: correlations with ultrasonography and urine biochemistry.Kidney Int1997. 521:21\u201332."},{"issue":"12","key":"i1543-2165-134-4-554-b58","series-title":"Mod Pathol","first-page":"1233","article-title":"Renal maldevelopment: a pediatric renal biopsy study.","volume":"10","author":"Bonsib, S. M.","year":"1997","unstructured":"Bonsib, S. M. and P.Koontz. 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The malformations of the urinary system in autosomal disorders.Virchows Arch A Path Anat and Histol1975. 3682:167\u2013178."},{"issue":"6","key":"i1543-2165-134-4-554-b65","series-title":"Pediatr Clin North Am","first-page":"1319","article-title":"Congenital nephropathies and uropathies.","volume":"42","author":"Becker, N.","year":"1995","unstructured":"Becker, N. and E. D.Avner. Congenital nephropathies and uropathies.Pediatr Clin North Am1995. 426:1319\u20131341."},{"issue":"2","key":"i1543-2165-134-4-554-b66","series-title":"J Am Soc Nephrol","first-page":"127","article-title":"Determinants of epithelial differentiation during early nephrogenesis.","volume":"1","author":"Brenner, B. M.","year":"1990","unstructured":"Brenner, B. M.\n          \n          Determinants of epithelial differentiation during early nephrogenesis.\n          J Am Soc Nephrol\n          1990. 12:127\u2013139."},{"key":"i1543-2165-134-4-554-b67","article-title":"The Time Machine.","author":"Wells, H. G.","unstructured":"Wells, H. G.\n          \n          The Time Machine.\n          London, England: William Heinemann; 1895. Serialized in: New Rev. 1894\u20131895."},{"issue":"7","key":"i1543-2165-134-4-554-b68","series-title":"Ann Intern Med","first-page":"510","article-title":"Clinical spectrum associated with hepatocyte nuclear factor-1\u03b2 mutations.","volume":"140","author":"Bellann\u00e9-Chantelot, C.","year":"2004","unstructured":"Bellann\u00e9-Chantelot, C., D.Chauveau, and J. F.Gautier. et al. Clinical spectrum associated with hepatocyte nuclear factor-1\u03b2 mutations.Ann Intern Med2004. 1407:510\u2013517."},{"issue":"1","key":"i1543-2165-134-4-554-b69","series-title":"J Med Genet","first-page":"84","article-title":"Mutations in hepatocyte nuclear factor-1\u03b2 and their related phenotypes.","volume":"43","author":"Edghill, E. L.","year":"2006","unstructured":"Edghill, E. L., C.Bingham, S.Ellard, and A. T.Hattersley. 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Mutations in the hepatocyte nuclear factor-1\u03b2 gene are associated with familial hypoplastic glomerulocystic kidney disease.Am J Hum Genet2001. 681:219\u2013224."},{"issue":"3","key":"i1543-2165-134-4-554-b72","series-title":"J Am Soc Nephrol","first-page":"923","article-title":"Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.","volume":"18","author":"Decramer, S.","year":"2007","unstructured":"Decramer, S., O.Parant, and S.Beaufils. et al. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.J Am Soc Nephrol2007. 183:923\u2013933."},{"issue":"3","key":"i1543-2165-134-4-554-b73","series-title":"Kidney Int","first-page":"898","article-title":"Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1\u03b2.","volume":"57","author":"Bingham, C.","year":"2000","unstructured":"Bingham, C., S.Ellard, and L.Allen. et al. 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Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.Am J Kidney Dis2006. 476:1004\u20131012."},{"issue":"7","key":"i1543-2165-134-4-554-b90","series-title":"J Am Soc Nephrol","first-page":"2141","article-title":"De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.","volume":"16","author":"Jenkins, D.","year":"2005","unstructured":"Jenkins, D., M.Bitner-Glindzicz, and S.Malcolm. et al. 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