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referencesuptodate· REFERENCES· item f29_13_29913

REFERENCES Shaikewitz ST, Chapman A. Autosomal recessive polycystic kidney disease: issues regarding the variability of clinical presentation. J Am Soc Nephrol 1993; 3:1858. Zerres K, Hansmann M, Mallmann R, Gembruch U. Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn 1988; 8:215. Bergmann C, Senderek J, Küpper F, et al. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 2004; 23:453. Adeva M, El-Youssef M, Rossetti S, et al. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 2006; 85:1. Zerres K, Rudnik-Schöneborn S, Steinkamm C, et al. Autosomal recessive polycystic kidney disease. J Mol Med (Berl) 1998; 76:303. Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002; 30:259. Onuchic LF, Furu L, Nagasawa Y, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 2002; 70:1305. Menezes LF, Cai Y, Nagasawa Y, et al. Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm. Kidney Int 2004; 66:1345. Wang S, Luo Y, Wilson PD, et al. The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. J Am Soc Nephrol 2004; 15:592. Bergmann C, Senderek J, Windelen E, et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005; 67:829. Bergmann C, Senderek J, Sedlacek B, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 2003; 14:76. Furu L, Onuchic LF, Gharavi A, et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol 2003; 14:2004. Sharp AM, Messiaen LM, Page G, et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 2005; 42:336.

referencesuptodate· REFERENCES· item f29_13_29913

Bergmann C, Senderek J, Sedlacek B, et al. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 2003; 14:76. Furu L, Onuchic LF, Gharavi A, et al. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol 2003; 14:2004. Sharp AM, Messiaen LM, Page G, et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 2005; 42:336. Gunay-Aygun M, Font-Montgomery E, Lukose L, et al. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol 2010; 5:972. Barth RA, Guillot AP, Capeless EL, Clemmons JJ. Prenatal diagnosis of autosomal recessive polycystic kidney disease: variable outcome within one family. Am J Obstet Gynecol 1992; 166:560. Deget F, Rudnik-Schöneborn S, Zerres K. Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships. Clin Genet 1995; 47:248. Kaplan BS, Kaplan P, de Chadarevian JP, et al. Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family. Am J Med Genet 1988; 29:639. Holthöfer H, Kumpulainen T, Rapola J. Polycystic disease of the kidney. Evaluation and classification based on nephron segment and cell-type specific markers. Lab Invest 1990; 62:363. Kissane JM. Renal cysts in pediatric patients. A classification and overview. Pediatr Nephrol 1990; 4:69. Lieberman E, Salinas-Madrigal L, Gwinn JL, et al. Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 1971; 50:277. Bernstein J. Hepatic involvement in hereditary renal syndromes. Birth Defects Orig Artic Ser 1987; 23:115. Kamath BM, Piccoli DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am 2003; 32:857. Gunay-Aygun, M, Gahl, WA, Heller, T. Congenital hepatic fibrosis overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). University of Washington, Seattle. www.genetest.org. Sgro M, Rossetti S, Barozzino T, et al. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol 2004; 23:73.

referencesuptodate· REFERENCES· item f29_13_29913

Gunay-Aygun, M, Gahl, WA, Heller, T. Congenital hepatic fibrosis overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). University of Washington, Seattle. www.genetest.org. Sgro M, Rossetti S, Barozzino T, et al. Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis. Ultrasound Obstet Gynecol 2004; 23:73. Kaplan BS, Kaplan P, Rosenberg HK, et al. Polycystic kidney diseases in childhood. J Pediatr 1989; 115:867. Rizk D, Chapman AB. Cystic and inherited kidney diseases. Am J Kidney Dis 2003; 42:1305. Parfrey PS. Autosomal-recessive polycystic kidney disease. Kidney Int 2005; 67:1638. Luthy DA, Hirsch JH. Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis. Am J Med Genet 1985; 20:505. Cole BR, Conley SB, Stapleton FB. Polycystic kidney disease in the first year of life. J Pediatr 1987; 111:693. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 2003; 111:1072. Kääriäinen H, Koskimies O, Norio R. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr Nephrol 1988; 2:296. Gagnadoux MF, Habib R, Levy M, et al. Cystic renal diseases in children. Adv Nephrol Necker Hosp 1989; 18:33. Kaplan BS, Fay J, Shah V, et al. Autosomal recessive polycystic kidney disease. Pediatr Nephrol 1989; 3:43. Fonck C, Chauveau D, Gagnadoux MF, et al. Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant 2001; 16:1648. Gunay-Aygun M, Avner ED, Bacallao RL, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006; 149:159. Mattoo TK, Khatani Y, Ashraf B. Autosomal recessive polycystic kidney disease in 15 Arab children. Pediatr Nephrol 1994; 8:85. Alvarez F, Bernard O, Brunelle F, et al. Congenital hepatic fibrosis in children. J Pediatr 1981; 99:370. Turkbey B, Ocak I, Daryanani K, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 2009; 39:100. Jung G, Benz-Bohm G, Kugel H, et al. MR cholangiography in children with autosomal recessive polycystic kidney disease. Pediatr Radiol 1999; 29:463.

referencesuptodate· REFERENCES· item f29_13_29913

Alvarez F, Bernard O, Brunelle F, et al. Congenital hepatic fibrosis in children. J Pediatr 1981; 99:370. Turkbey B, Ocak I, Daryanani K, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 2009; 39:100. Jung G, Benz-Bohm G, Kugel H, et al. MR cholangiography in children with autosomal recessive polycystic kidney disease. Pediatr Radiol 1999; 29:463. Dell, KR, Avner, ED, Polycystic kidney disease, autosomal recessive. GeneReviews. 2009. file://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pkd-ar (Accessed on September 01, 2010). Zerres K, Rudnik-Schöneborn S, Deget F, et al. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr 1996; 85:437. Boal DK, Teele RL. Sonography of infantile polycystic kidney disease. AJR Am J Roentgenol 1980; 135:575. Kern S, Zimmerhackl LB, Hildebrandt F, et al. Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography. Pediatr Radiol 2000; 30:156. Bergmann C, Küpper F, Dornia C, et al. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 2005; 25:225. Bergmann C, Senderek J, Schneider F, et al. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat 2004; 23:487. Zerres K, Senderek J, Rudnik-Schöneborn S, et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet 2004; 66:53. Gigarel N, Frydman N, Burlet P, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online 2008; 16:152. Gunay-Aygun M, Tuchman M, Font-Montgomery E, et al. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Mol Genet Metab 2010; 99:160. Consugar MB, Anderson SA, Rossetti S, et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis 2005; 45:77. Shukla AR, Kiddoo DA, Canning DA. Unilateral nephrectomy as palliative therapy in an infant with autosomal recessive polycystic kidney disease. J Urol 2004; 172:2000.

referencesuptodate· REFERENCES· item f29_13_29913

Consugar MB, Anderson SA, Rossetti S, et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis 2005; 45:77. Shukla AR, Kiddoo DA, Canning DA. Unilateral nephrectomy as palliative therapy in an infant with autosomal recessive polycystic kidney disease. J Urol 2004; 172:2000. Khan K, Schwarzenberg SJ, Sharp HL, et al. Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease. Am J Transplant 2002; 2:360. Zerres K, Mücher G, Becker J, et al. Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 1998; 76:137. Topic 6138 Version 14.0 © 2013 UpToDate, Inc. All rights reserved. | Subscription and License Agreement | Release: 21.6- C21.56 Licensed to: AsanBook Dig. Med. Lib. | Support Tag: [1104-61.234.146.186-FF084CEA57-S244013.14]