Year 2013 / Volume 105 / Number 1
Letter to the Editor
Clinical variability of mutations in the ABCB11 gene: A case report

pp. 54-56

Marta Jaquotot Herranz, Laura Casanova Martínez, Antonio Olveira Martín, Pilar Castillo Grau, Luis Álvarez García, Paloma Jara Vega y Francisco Gea Rodríguez

Abstract
A 46-year-old woman diagnosed with PFIC when she was 14. She has a brother with PFIC who had a liver transplant because he developed liver cirrhosis.
In her past medical history, she showed intrahepatic cholesta- sis of pregnancy (ICP), with disorders in prothrombin activity (which was corrected with vitamin K) and an intrauterine dead fetus within 38 weeks of pregnancy. She had continuous light pruritus that was more intense during ovulation. The most intense episodes of pruritus, which lasted 1 month each and occurred 2 or 3 times per year, were associated with acholia and weight loss.
Currently, she is receiving a treatment of Ursochol® 900 mg per day and is asymptomatic except for occasional self-limited pruritus episodes at night.
Her blood test during pregnancy showed 200 U/L ALT, 800 U/L alkaline phosphatase, 70 U/L AST and a normal gamma- glutamyl transpeptidase (GGT). Currently, she has normal transaminases (AST, ALT, and GGT), 153 U/L alkaline phos- phatise, and 1.3 mg/dL total bilirubin.
The last ultrasound showed a liver with a normal size and morphology, regular borders, and a homogeneous pattern. The splenic-portal venous axis and suprahepatic veins were permeable, non-dilated, and had a normal flow. Her gallbladder contained bile stones inside and there was no bile duct dilation.
A genetic study was done, which detected two heterozygotic mutations in the ABCB11 gene. The first mutation was found in exon 8 (change T>C in nucleotide 698), meaning the substitution of leucine 233 for serine (L233S) took place. The second was in exon 27 (change C>A in nucleotide 3933) which entailed the sub- stitution of tyrosine 1311 for a stop codon (Y1311X). This data was compatible with a BSEP deficiency.
A genetic analysis of her children and her brother, who had had a transplant, was suggested to the patient, due to the lack of clinical and genetic correlation between her family history and initial diagnosis. However, the patient rejected this suggestion.
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Marta Jaquotot Herranz, Laura Casanova Martínez, Antonio Olveira Martín, Pilar Castillo Grau, Luis Álvarez García, Paloma Jara Vega y Francisco Gea Rodríguez. Clinical variability of mutations in the ABCB11 gene: A case report. 54-56


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