Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia

Amirifar P, Ranjouri MR, Lavin M, Abolhassani H, Yazdani R, Aghamohammadi A. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management. Expert Rev Clin Immunol. 2020;16(9):859–71.

Article  CAS  PubMed  Google Scholar 

Natale VAI, Cole TJ, Rothblum-Oviatt C, Wright J, Crawford TO, et al. Growth in ataxia telangiectasia. Orphanet J Rare Dis. 2021;16(1):123.

Article  PubMed  PubMed Central  Google Scholar 

Stray-Pedersen A, Jónsson T, Heiberg A, Lindman CR, Widing E, Aaberge IS, et al. The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents. Clin Exp Immunol. 2004;137(1):179–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ambrose M, Gatti RA. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. Blood. 2013;121(20):4036–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paulino TL, Rafael MN, Hix S, Shigueoka DC, Ajzen SA, Kochi C, et al. Is age a risk factor for liver disease and metabolic alterations in ataxia telangiectasia patients? Orphanet J Rare Dis. 2017;12(1):136.

Article  PubMed  PubMed Central  Google Scholar 

Lavin MF, Lederman HM. Chromosomal breakage syndromes associated with immunodeficiency. In: Stiehm ER, Ochs HD, Winkelstein JA, editors. Immunologic disorders in infants & children. 5th ed. Philadelphia: Elsevier/Saunders; 2004. p. 580–7.

Google Scholar 

Guo Z, Deshpande R, Paull TT. ATM activation in the presence of oxidative stress. Cell Cycle. 2010;9(24):4805–11.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barzilai A, Rotman G, Shiloh Y. ATM deficiency and oxidative stress: a new dimension of defective response to DNA damage. DNA Repair Amst. 2002;1(1):3–25.

Article  CAS  PubMed  Google Scholar 

Donath H, Woelke S, Theis M, Heß U, Knop V, Herrmann E, et al. Progressive liver disease in patients with ataxia telangiectasia. Front Pediatr. 2019;7:458.

Article  PubMed  PubMed Central  Google Scholar 

Weiss B, Krauthammer A, Soudack M, Lahad A, Sarouk I, Somech R, et al. Liver disease in pediatric patients with ataxia telangiectasia: a novel report. J Pediatr Gastroenterol Nutr. 2016;62(4):550–5.

Article  CAS  PubMed  Google Scholar 

Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM. Immunodeficiency and infections in ataxia-telangiectasia. J Pediatr. 2004;144(4):505–11.

Article  PubMed  Google Scholar 

van Os NJH, Jansen AFM, van Deuren M, Haraldsson A, van Driel NTM, Etzioni A, et al. Ataxia-telangiectasia: Immunodeficiency and survival. Clin Immunol. 2017;178:45–55.

Article  PubMed  Google Scholar 

Szczawińska-Popłonyk A, Ossowska L, Jończyk-Potoczna K. Granulomatous liver disease in ataxia-telangiectasia with the hyper-igm phenotype: a case report. Front Pediatr. 2020;8:570330.

Article  PubMed  PubMed Central  Google Scholar 

Caballero T, Caba-Molina M, Salmerón J, Gómez-Morales M. Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia. Case Reports Hepatol. 2014;2014:761250.

Article  PubMed  PubMed Central  Google Scholar 

Patil MM, Patil SV. Ataxia telangiectasia with hepatocellular carcinoma. Indian Pediatr. 2009;46(6):546.

CAS  PubMed  Google Scholar 

Krishna Kumar G, Al Saadi A, Yang SS, McCaughey RS. Ataxia-telangiectasia and hepatocellular carcinoma. Am J Med Sci. 1979;278:157–60.

Article  CAS  PubMed  Google Scholar 

Yoshitomi F, Zaitsu Y, Tanaka K. Ataxia-telangiectasia with renal cell carcinoma and hepatoma. Virchows Arch A Pathol Anat Histol. 1980;389(1):119–25.

Article  CAS  PubMed  Google Scholar 

Weinstein S, Scottolini AG, Loo SY, Caldwell PC, Bhagavan NV. Ataxia telangiectasia with hepatocellular carcinoma in a 15-year-old girl and studies of her kindred. Arch Pathol Lab Med. 1985;109(11):1000–4.

CAS  PubMed  Google Scholar 

Bravo AA, Sheth SG, Chopra S. Liver biopsy. N Engl J Med. 2001;344(7):495–500.

Article  CAS  PubMed  Google Scholar 

Dhingra S, Ward SC, Thung SN. Liver pathology of hepatitis C, beyond grading and staging of the disease. World J Gastroenterol. 2016;22(4):1357–66.

Article  CAS  PubMed  PubMed Central  Google Scholar 

European Association for the Study of the Liver; List of panel members (alphabetical order), Berzigotti A, Boursier J, Castera L, Cazzagon N, Friedrich-Rust M, Petta S, Thiele M, Tsochatzis E. Easl clinical practice guidelines (Cpgs) on non-invasive tests for evaluation of liver disease severity and prognosis- 2020 update. J Hepatol. 2021;S0168–8278(21):00398–406.

Google Scholar 

Tsai E, Lee TP. Diagnosis and evaluation of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis, including noninvasive biomarkers and transient elastography. Clin Liver Dis. 2018;1:73–92.

Article  Google Scholar 

Wong VW, Adams LA, de Lédinghen V, Wong GL, Sookoian S. Noninvasive biomarkers in NAFLD and NASH-current progress and future promise. Nat Rev Gastroenterol Hepatol. 2018;8:461–78.

Article  Google Scholar 

Biberci Keskin E, Coban G. Evaluation of liver biopsy findings and comparison with noninvasive fibrosis scores in patients with non-alcoholic steatohepatitis. Medeni Med J. 2019;34(4):354–9.

PubMed  PubMed Central  Google Scholar 

McPherson S, Stewart SF, Henderson E, Burt AD, Day CP. Simple non-invasive fibrosis scoring systems can reliably exclude advanced fibrosis in patients with non-alcoholic fatty liver disease. Gut. 2010;59(9):1265–9.

Article  PubMed  Google Scholar 

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, ESID registry working party and collaborators, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763–70.

Article  PubMed  Google Scholar 

World Health Organization. Physical status: the use and interpretation of anthropometry: report of a WHO Expert Committee. World Health Organ Tech Rep Ser. 1995;854:1–452.

Google Scholar 

Frisancho AR. Anthropometric standards for the assessment of growth and nutritional status. Ann Arbor: The University of Michigan Press; 1990. p. 189.

Book  Google Scholar 

de Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J. Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ. 2007;85(9):660–7.

Article  PubMed  PubMed Central  Google Scholar 

Lohman TG. Advances in body composition assessment: current issues in exercises science. Illinois: Human Kinetic Publisher; 1992. p. 335.

Google Scholar 

Slaughter MH, Lohman TG, Boileau RA, Horswill CA, Stillman RJ, Van Loan MD, et al. Skinfold equations for estimation of body fatness in children and youth. Hum Biol. 1988;60(709):23.

Google Scholar 

Deurenberg P, Pieters JJ, Hautuast JG. The assessment of the body fat percentage by skinfold thickness measurement in childhood e young adolescent. Br J Nutr. 1990;63:293–303.

Article  CAS  PubMed  Google Scholar 

Blackburn GL, Thornton PA. Nutritional assessment of the hospitalized patients. Med Clin North Am. 1979;63:11103–15.

Article  CAS  PubMed  Google Scholar 

Ashwell M, Gunn P, Gibson S. Waist-to-height ratio is a better screening tool than waist circumference and BMI for adult cardiometabolic risk factors: systematic review and meta-analysis. Obes Rev. 2012;13(3):275–86.

Article  CAS  PubMed  Google Scholar 

Khoury M, Manlhiot C, McCrindle BW. Role of the waist/height ratio in the cardiometabolic risk assessment of children classified by body mass index. J Am Coll Cardiol. 2013;62(8):742–51.

Article  PubMed  Google Scholar 

Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls and boys. Arch Dis Child. 1969;44:291–303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maggi FA, Braga-Neto P, Chien HF, Gama MTD, Rezende Filho FM, Saraiva-Pereira ML, et al. Cross-cultural adaptation and validation of the international cooperative ataxia rating scale (ICARS) to Brazilian Portuguese. Arq Neuropsiquiatr. 2018;76(10):674–84.

Article  PubMed  Google Scholar 

Wai CT, Greenson JK, Fontana RJ, Kalbfleisch JD, Marrero JA, Conjeevaram HS, et al. A simple noninvasive index can predict both significant fibrosis and cirrhosis in patients with chronic hepatitis C. Hepatology. 2003;38(2):518–26.

Article  PubMed  Google Scholar 

Angulo P, Hui JM, Marchesini G, Bugianesi E, George J, Farrell GC, et al. The NAFLD fibrosis score: a noninvasive system that identifies liver fibrosis in patients with NAFLD. Hepatology. 2007;45(4):846–54.

Article  CAS  PubMed  Google Scholar 

Harrison SA, Oliver D, Arnold HL, Gogia S, Neuschwander-Tetri BA. Development and validation of a simple NAFLD clinical scoring system for identifying patients without advanced disease. Gut. 2008;57(10):1441–7.

Article  CAS  PubMed 

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