PMID: 17554556

Collardeau-Frachon S, Bouvier R, Le Gall C, Rivet C, Cabet F, Bellon G, Lachaux A, Scoazec JY
Unexpected diagnosis of cystic fibrosis at liver biopsy: a report of four pediatric cases.
Virchows Arch. 2007 Jul;451(1):57-64. Epub 2007 Jun 7., [PubMed]
Sentences
No. Mutations Sentence Comment
59 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17554556:59:1425
status: NEW
view ABCC7 p.Asn1303Lys details
 Focal periportal fibrosis was associated with ductular proliferation Table 2 Histological findings 1 2 3 4 Tissue sample Liver biopsy Autopsy Liver biopsy Liver biopsy Number of portal spaces 24 12 25 Steatosis and % hepatocytes 80 80 90 80 Giant cell transformation - - - - Expansion of portal tracts + + - + Fibrosis Extensive bridging Extensive bridging - Focal, periportal Focal cirrhosis Focal cirrhosis Cholangiolitis + + - - Ductular proliferation + + - - Cholestasis - - - - Mucous plugs PAS + + + - - Iron deposition - - - - Extramedullary hemopoiesis - - - - Table 1 Clinical features Patients 1 2 3 4 Age at clinical presentation 43 months 13 months 42 months 7 1/2 years Sex Male Female Male Female Mode of presentation Abdominal pain Growth retardation No symptom Abdominal pain Chronic diarrhea Heart failure causing death Chronic constipation Clinical examination Hepatomegaly Hepatomegaly Hepatomegaly Hepatomegaly Liver blood tests ↑ Transaminases ↑ Transaminases ↑ Transaminases No abnormality Ultrasound findings Heterogeneous pseudotumoral hepatomegaly Hepatomegaly Hepatomegaly Heterogeneous pseudotumoral hepatomegaly Sweat test highest chloride value (mmol/l) and age of realization 102 (at 43 months, after liver biopsy) 27 (at 7 months) 135 (at 42 months, after liver biopsy) 102 (at 7 1/2 years, after liver biopsy) CFTR mutations ΔF508 ΔF508 1717-1 (G-A) 585 (E-X) N1303K ΔF508 1303 (N-K) 1066 (R-C) Clinical outcome Alive Dead of heart failure due to myocardial necrosis and fibrosis Alive Alive No sign of pancreatic insufficiency or bronchitis First bronchitis at 5 years Portal hypertension (splenomegaly and esophagus varicoses) at 15 years Duration of follow-up 6 months - 11 years 14 years and pericholangitis, defined by the presence of a rim of inflammatory cells, including polymorphonuclear leukocytes and lymphocytes around the bile ducts. Login to comment 74 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 17554556:74:142
status: NEW
view ABCC7 p.Asn1303Lys details
 The ΔF 508 mutation was present in two cases (cases no. 1 and no. 2); it was homozygous in one case, heterozygous and associated with a N1303K mutation in the other. Login to comment