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Additionally, there is only limited knowledge on alternative splicing of ABCB4 and its functional relevance.

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

Age at genetic and clinical diagnosis was recorded as well as laboratory values at these time points. Patients with an initial diagnosis of ABCB4 disease in adulthood may display a clinical phenotype with a later onset, such as ICP; alternatively, clinical or laboratory signs of the disease could have been misinterpreted or overlooked. Please review our privacy policy.

SerPhe het missense 29 c. ArgGly het missense 5 c.

Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

Fluctuating activities of transaminases and even normal GGT or bilirubin levels might contribute to the delay in correct diagnosis.

As a treatment strategy, UDCA has been used in most patients soon torm diagnosis. The effect of therapy was judged as intermediate in 17 children; 4 patients showed no response to UDCA. Eur J Hum Genet ; J Pediatr ; With progression of disease, 16 out of 26 children were listed for liver transplantation at a median age of 6. In patients with disease onset 2380gg the 2308g of 18 years, 20 different mutations were found.


Articles from Hepatology Communications are provided here courtesy of Wiley-Blackwell. Nat Genet ; C, liver cirrhosis; CCa, cholangiocarcinoma; n. Treatment in 1 of the patients with ICP resulted in a complete response while pregnant, and the second patient responded partially. 238g transplantation for progressive familial intrahepatic cholestasis: At the time of diagnosis, only 7 patients had elevated serum bilirubin concentrations.

Laboratory parameters collected at the first available documentation were alanine aminotransferase, aspartate aminotransferase, GGT, serum bilirubin, and bile acid concentrations.

There might be an underrepresentation of heterozygotes due to the broad disease spectrum not leading to medical contact in a subgroup of these individuals. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.

TyrSer hom missense 22 c. Prenatal molecular diagnosis of inherited cholestatic diseases. The pathophysiologic relevance is not clear for all ABCB4 variants. One of the limitations of the present study is that data could only be gathered retrospectively from different hospitals.


Pediatr Gastroenterol Hepatol Nutr ; De Vree et al. Z Gastroenterol ; Cognitive performance in pediatric liver transplant recipients.


Young patients of the cohort were misdiagnosed with biliary atresia as a common differential diagnosis at this age, but no obvious risk factors could be identified. Comorbidities None of the patients suffered from chronic diarrhea.

Analysis of gene mutations in children with cholestasis of undefined etiology. In 1 of the patients with LPAC, only partial removal of intrahepatic bile duct stones was feasible despite multiple approaches by endoscopic retrograde cholangiopancreaticography and percutaneous transhepatic cholangiography.

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Factors or modifiers responsible for symptoms in heterozygous carriers are unknown. Although no higher education was reported in our pediatric cohort, statistic confounders and the patient’s young age or socioeconomic background must be considered. The wide spectrum of multidrug resistance 3 deficiency: Disease progression, as indicated by signs of portal hypertension, appeared at about 6. Am J Transplant ; These incorrect diagnoses might have been due to a delay in genetic diagnosis as testing of ABCB4 variants was performed in the pediatric patients more than 4 years median after initial clinical symptoms.

This finding points to the impact of further disease modifiers, such as genetic variants of other hepatocanalicular transporter genes, hormones, or environmental factors. J Gastroenterol Hepatol ;