Mother-to-daughter occurrence of biliary atresia: a case report

Kobayashi, Kumiko; Kubota, Masayuki; Okuyama, Naoki; Hirayama, Yutaka; Watanabe, Michitoshi; Sato, Kanako

doi:10.1016/j.jpedsurg.2008.03.051

Cited by 15 publications

(6 citation statements)

References 20 publications

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“…209 Other genetic disorders may be associated with BA as familial occurrence has been reported, 210,211 and in one case a woman who had had BA gave birth to a daughter with BA. 212 Viral infection in combination with a genetic predisposition to a robust or disordered inflammatory response may play a role in the development of late-pattern (perinatal/acquired) BA. Chance occurrence of a viral infection during a limited period of susceptibility would explain the rarity of BA; however, no consensus exists as to which viruses are pre-eminent in such an aetiopathogenesis and some recent observations suggest that viral infection is a secondary phenomenon.…”

Section: Spontaneous Bile Duct Perforationmentioning

confidence: 99%

Developmental abnormalities and liver disease in childhood

Portmann¹,

Roberts²

2012

MacSween's Pathology of the Liver

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Section: Spontaneous Bile Duct Perforationmentioning

confidence: 99%

Developmental abnormalities and liver disease in childhood

Portmann¹,

Roberts²

2012

MacSween's Pathology of the Liver

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“…Second, BA has been associated with certain HLA genotypes [Silveira et al, 1991; A‐Kader et al, 2002]. Third, although BA is most often sporadic, there are multiple reports of BA occurring in the same families [Whitten and Adie, 1952; Nevin et al, 1969; Cunningham and Sybert, 1988; Lachaux et al, 1988; Smith et al, 1991; Gunasekaran et al, 1992; Anneren et al, 1998], including one report of mother to child transmission of BA [Kobayashi et al, 2008]. The rarity of BA makes twin studies difficult and the lack of zygosity reporting in the majority of twin cases makes interpretation impossible; however, the low concordance overall suggests that BA is not a purely genetic disease [Khaimin, 1969; Morris et al, 1977; Werlin, 1981; Hyams et al, 1985; Strickland et al, 1985; Schweizer and Kerremans, 1988; Hart et al, 1991; Silveira et al, 1991; Smith et al, 1991; Poovorawan et al, 1996].…”

Section: Introductionmentioning

confidence: 99%

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

Leyva–Vega

Gerfen

Thiel

et al. 2010

American J of Med Genetics Pt A

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Biliary atresia (BA) is a progressive, idiopathic obliteration of the extrahepatic biliary system occurring exclusively in the neonatal period. It is the most common disease leading to liver transplantation in children. The etiology of BA is unknown, although infectious, immune and genetic causes have been suggested. While the recurrence of BA in families is not common, there are more than 30 multiplex families reported and an underlying genetic susceptibility has been hypothesized. We screened a cohort of 35 BA patients for genomic alterations that might confer susceptibility to BA. DNA was genotyped on the Illumina Quad550 platform, which analyzes over 550,000 single nucleotide polymorphisms (SNPs) for genomic deletions and duplications. Areas of increased and decreased copy number were compared to those found in control populations. In order to identify regions that could serve as susceptibility factors for BA, we searched for regions that were found in BA patients, but not in controls. We identified two unrelated BA patients with overlapping heterozygous deletions of 2q37.3. Patient 1 had a 1.76 Mb (280 SNP), heterozygous deletion containing thirty genes. Patient 2 had a 5.87 Mb (1,346 SNP) heterozygous deletion containing fifty-five genes. The overlapping 1.76 Mb deletion on chromosome 2q37.3 from 240,936,900 to 242,692,820 constitutes the critical region and the genes within this region could be candidates for susceptibility to BA.

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“…66 Other genetic disorders may be associated with BA because familial occurrence has been reported, 67,68 and in one case a woman who previously had BA gave birth to a daughter with BA. 69 A lethal autosomal recessive syndrome with intrauterine growth retardation, once called intra-and B A human disease. IFN-γ plays an important role in bile duct damage: knockout mice not expressing IFN-γ failed to incur severe duct damage after infection with RRV despite a brief hepatitis, whereas wild-type animals did; administration of recombinant IFN-γ abrogated the protective effect of not being able to produce IFN-γ.…”

Section: Classification and Aetiopathogenesismentioning

confidence: 99%

Developmental and Inherited Liver Disease

Quaglia¹,

Roberts²,

Torbenson³

2018

Macsween's Pathology of the Liver

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Diagnostic approach to histology 113 Neonatal and early infantile liver disease 113 Postneonatal, childhood and adulthood presentation 118 Neonatal hepatitis 119 Histopathological features 120 Biliary atresia 121 Classification and aetiopathogenesis 121 Pathological features at surgical intervention 124 Pathology of intrahepatic changes 126 Paucity of intrahepatic bile ducts 129 Alagille syndrome (arteriohepatic dysplasia) 129 Nonsyndromic duct paucity disorders 131 Bile duct anomalies, congenital dilations and ductal plate malformation disorders 131 Choledochal cyst 132 Hereditary fibropolycystic disease (ductal plate malformation) 133 Cystic fibrosis 141 Hereditary disorders of bile acid synthesis and bilirubin metabolism 143 Primary disorders of bile acid synthesis 143 Disorders of bile canalicular transporters 146 Other diseases causing intrahepatic cholestasis 150 Hereditary defects of bilirubin metabolism 151 Disorders of porphyrin metabolism 153 Porphyria cutanea tarda 154 Erythropoietic protoporphyria 155 Disorders of carbohydrate metabolism and related conditions 156 Glycogen storage diseases (glycogenoses) 156 Myoclonus epilepsy, Lafora type (Lafora disease) 161 Galactosaemia Hereditary fructose intolerance Disorders of glycoprotein and glycolipid metabolism Mucopolysaccharidoses Aspartylglucosaminuria α-Mannosidosis Fucosidosis Mucolipidoses Congenital disorders of glycosylation (carbohydrate-deficient glycoprotein syndrome) Endoplasmic reticulum storage diseases α1-Antitrypsin deficiency α1-Antichymotrypsin deficiency Afibrinogenaemia and hypofibrinogenaemia Antithrombin III deficiency Disorders of amino acid metabolism Hereditary tyrosinaemia type 1 Congenital hyperammonaemia syndromes and urea cycle disorders Cystinosis Homocystinuria (cystathionine β-synthase deficiency) Disorders of lipoprotein and lipid metabolism Abetalipoproteinaemia Familial hypobetalipoproteinaemia Familial high-density lipoprotein deficiency (Tangier disease) Familial hypercholesterolaemia Wolman disease and cholesteryl ester storage disease Gangliosidoses α-Galactosidase A deficiency (Fabry disease) Sulphatide lipidosis (metachromatic leucodystrophy) Chapter 3 Developmental and Inherited Liver Disease

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Mother-to-daughter occurrence of biliary atresia: a case report

Cited by 15 publications

References 20 publications

Developmental abnormalities and liver disease in childhood

Developmental abnormalities and liver disease in childhood

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

Developmental and Inherited Liver Disease

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