PDF herunterladen
J Pediatr Genet 2017; 06(02): 122-125
DOI: 10.1055/s-0036-1597930
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature

Ranjit I. Kylat
1   Division of Neonatal-Perinatal Medicine and Developmental Biology, Department of Pediatrics, University of Arizona, Tucson, Arizona, United States
› Institutsangaben
Weitere Informationen

Publikationsverlauf

16. August 2016

30. November 2016

Publikationsdatum:
02. Januar 2017 (online)

Auch verfügbar auf
    Lizenzen und Reprints

Abstract

Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased. These two conditions occurring in the same patient has never been reported before.

Keywords

biliary atresia - achondroplasia - skeletal dysplasia - fibroblast growth factors - fibroblast growth factor 21 - fibroblast growth factor 23 - fibroblast growth factor receptor 3 - glypican 1
 

  • References

  • 1 Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet 2007; 370 (9582): 162-172
    CrossrefPubMedGoogle Scholar
  • 2 Nakamura K, Tanoue A. Etiology of biliary atresia as a developmental anomaly: recent advances. J Hepatobiliary Pancreat Sci 2013; 20 (5) 459-464
    CrossrefPubMedGoogle Scholar
  • 3 Leyva-Vega M, Gerfen J, Thiel BD , et al. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A 2010; 152A (4) 886-895
    CrossrefPubMedGoogle Scholar
  • 4 Brewer JR, Mazot P, Soriano P. Genetic insights into the mechanisms of FGF signaling. Genes Dev 2016; 30 (7) 751-771
    CrossrefPubMedGoogle Scholar
  • 5 Ornitz DM, Marie PJ. Fibroblast growth factor signaling in skeletal development and disease. Genes Dev 2015; 29 (14) 1463-1486
    CrossrefPubMedGoogle Scholar
  • 6 Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Hum Mutat 2012; 33 (1) 29-41
    CrossrefPubMedGoogle Scholar
  • 7 Laederich MB, Horton WA. FGFR3 targeting strategies for achondroplasia. Expert Rev Mol Med 2012; 14: e11 DOI: 10.1017/erm.2012.4.
    CrossrefPubMedGoogle Scholar
  • 8 de Azevedo Moreira LM, Matos MA, Schiper PP , et al. Co-occurrence of achondroplasia and Down syndrome: genotype/phenotype association. Birth Defects Res A Clin Mol Teratol 2010; 88 (4) 228-231
    PubMedGoogle Scholar
  • 9 Zagory JA, Nguyen MV, Wang KS. Recent advances in the pathogenesis and management of biliary atresia. Curr Opin Pediatr 2015; 27 (3) 389-394
    CrossrefPubMedGoogle Scholar
  • 10 Carmi R, Magee CA, Neill CA, Karrer FM. Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. Am J Med Genet 1993; 45 (6) 683-693
    CrossrefPubMedGoogle Scholar
  • 11 Guttman OR, Roberts EA, Schreiber RA, Barker CC, Ng VL ; Canadian Pediatric Hepatology Research Group. Biliary atresia with associated structural malformations in Canadian infants. Liver Int 2011; 31 (10) 1485-1493
    CrossrefPubMedGoogle Scholar
  • 12 Yang MC, Chang MH, Chiu SN , et al. Implication of early-onset biliary atresia and extrahepatic congenital anomalies. Pediatr Int 2010; 52 (4) 569-572
    CrossrefPubMedGoogle Scholar
  • 13 Becker DJ, Islam S, Geiger JD. Biliary atresia associated with hypoplastic left heart syndrome: a case report and review of the literature. J Pediatr Surg 2004; 39 (9) 1411-1413
    CrossrefPubMedGoogle Scholar
  • 14 Maegawa GH, Chitayat D, Blaser S , et al. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?. Clin Dysmorphol 2006; 15 (4) 191-196
    CrossrefPubMedGoogle Scholar
  • 15 Jimenez-Rivera C, Jolin-Dahel KS, Fortinsky KJ, Gozdyra P, Benchimol EI. International incidence and outcomes of biliary atresia. J Pediatr Gastroenterol Nutr 2013; 56 (4) 344-354
    CrossrefPubMedGoogle Scholar
  • 16 Deveci MS, Deveci G. Biliary atresia splenic malformation syndrome—is it a result of embryonically midline rotational defects? A case report. J Pediatr Surg 2000; 35 (9) 1377-1380
    CrossrefPubMedGoogle Scholar
  • 17 Martínez-Frías ML, Frías JL, Galán E, Domingo R, Paisán L, Blanco M. Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency. Am J Med Genet 1992; 44 (3) 352-355
    CrossrefPubMedGoogle Scholar
  • 18 Annerén G, Meurling S, Lilja H, Wallander J, von Döbeln U. Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia. Am J Med Genet 1998; 78 (3) 306-307
    CrossrefPubMedGoogle Scholar
  • 19 Pameijer CR, Hubbard AM, Coleman B, Flake AW. Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: prenatal diagnostic features and review of the literature. J Pediatr Surg 2000; 35 (5) 745-747
    CrossrefPubMedGoogle Scholar
  • 20 McGaughran JM, Donnai D, Clayton-Smith J. Biliary atresia in Kabuki syndrome. Am J Med Genet 2000; 91 (2) 157-158
    CrossrefPubMedGoogle Scholar
  • 21 Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. Biliary atresia and Kabuki syndrome: another case with long-term follow-up. Am J Med Genet 2001; 100 (3) 251 DOI: 10.1002/ajmg.1253.
    CrossrefPubMedGoogle Scholar
  • 22 Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC. Hepatic fibrosis in Kabuki syndrome. Am J Med Genet A 2004; 124A (2) 209-212
    CrossrefPubMedGoogle Scholar
  • 23 Higuchi Y, Hasegawa K, Yamashita M, Fujii Y, Tanaka H, Tsukahara H. HDR syndrome in a Japanese girl with biliary atresia: a case report. BMC Pediatr 2016; 16: 14 DOI: 10.1186/s12887-016-0550-9.
    CrossrefPubMedGoogle Scholar
  • 24 Ke J, Zeng S, Mao J , et al. Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population. J Pediatr Surg 2016; 51 (10) 1661-1664
    CrossrefPubMedGoogle Scholar
  • 25 Mezina A, Karpen SJ. Genetic contributors and modifiers of biliary atresia. Dig Dis 2015; 33 (3) 408-414
    CrossrefPubMedGoogle Scholar
  • 26 Ningappa M, Min J, Higgs BW, Ashokkumar C, Ranganathan S, Sindhi R. Genome-wide association studies in biliary atresia. Wiley Interdiscip Rev Syst Biol Med 2015; 7 (5) 267-273
    CrossrefPubMedGoogle Scholar
  • 27 Cui S, Leyva-Vega M, Tsai EA , et al. Evidence from human and zebra fish that GPC1 is a biliary atresia susceptibility gene. Gastroenterology 2013; 144 (5) 1107-1115.e3 DOI: 10.1053/j.gastro.2013.01.022.
    CrossrefPubMedGoogle Scholar
  • 28 Smith K. Biliary tract: GPC1 genetic risk further links Hedgehog signalling with pathogenesis of biliary atresia. Nat Rev Gastroenterol Hepatol 2013; 10 (3) 127 DOI: 10.1038/nrgastro.2013.20.
    PubMedGoogle Scholar
  • 29 Wasserman H, Ikomi C, Hafberg ET, Miethke AG, Bove KE, Backeljauw PF. Two case reports of FGF23-induced hypophosphatemia in childhood biliary atresia. Pediatrics 2016; 138 (2) e20154453 DOI: 10.1542/peds.2015-4453.
    CrossrefPubMedGoogle Scholar
  • 30 Li D, Lu T, Shen C , et al. Expression of fibroblast growth factor 21 in patients with biliary atresia. Cytokine 2016; 83: 13-18
    CrossrefPubMedGoogle Scholar
  • 31 Mora MC, Volka J, Cuevas-Ocampoa AK , et al. Martinez-Frias syndrome: evidence of linkage to RFX6 mutation. J Pediatr Surg Case Rep 2014; 2 (11) 492-494
    PubMedGoogle Scholar
  • 32 Li FB, Zhao H, Peng KR , et al. Expression of transforming growth factor-β1 and connective tissue growth factor in congenital biliary atresia and neonatal hepatitis liver tissue. Genet Mol Res 2016; 15 (1) DOI: 10.4238/gmr.15017217.
    PubMedGoogle Scholar
  • 33 Cofer ZC, Cui S, EauClaire SF , et al. Methylation microarray studies highlight PDGFA expression as a factor in biliary atresia. PLoS One 2016; 11 (3) e0151521 DOI: 10.1371/journal.pone.0151521.
    CrossrefPubMedGoogle Scholar