Liver disease is frequently observed in Down syndrome patients with transient abnormal myelopoiesis
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Transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) is characterized by the transient appearance of blast cells, which resolves spontaneously. Approximately 20 % of patients with TAM die at an early age due to organ failure, including liver disease. We studied 25 DS-TAM patients retrospectively to clarify the correlation between clinical and laboratory characteristics and liver diseases. Early death (<6 months of age) occurred in four of the 25 patients (16.0 %), and two of those four patients died due to liver failure. Although physiologic jaundice improved gradually after a week, all DS patients had elevated D-Bil levels during the clinical course of TAM, except one who suffered early death. The median peak day of the WBC count, total bilirubin (T-Bil) and D-Bil levels was: day 1 (range day 0–57), day 8 (range day 1–55), and day 17 (range 1–53), respectively. Our results reveal that all patients with DS-TAM may develop liver disease irrespective of the absence or presence of symptoms and risk factors for early death. In patients of DS-TAM, careful observation of the level of D-Bil is needed by at least 1 month of age for the detection of liver disease risk.
KeywordsDown syndrome AML Liver disease Direct bilirubin Cytarabine therapy
This work was supported by a grant for Cancer Research, and a grant for Research on Children and Families from the Ministry of Health, Labor, and Welfare of Japan, and a Grant-in-Aid for Scientific Research (B) and (C) and Exploratory Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, and a Research grant for Bureau of Gunma Prefectural Hospitals.
- 15.Ambalavanan N, Carlo WA. Jaundice and hyperbilirubinemia in the Newborn. In: Kligman RM, Stanton BF, Geme JS, Scgor NF, editors. Nelson textbook of pediatrics. Philadelphia: Elsevier; 2011. p. 603–5.Google Scholar
- 20.Moyer V, Freese DK, Whitington PF, Olson AD, Brewer F, Colletti RB, et al. Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2004;39:115–28.PubMedCrossRefGoogle Scholar
- 27.Davis AR, Rosenthal P, Escobar GJ, Newman TB. Interpreting conjugated bilirubin levels in newborns. J Pediatr. 2011;158(562–5):e1.Google Scholar
- 29.Sotomatsu M, Park MJ, Shimada A, hayashi Y. A case of Down syndrome with transient abnormal myelopoiesis and nonsyndromic paucity of interlobular bile ducts. Jpn J Pediatric Hematol. 2008;22:34–7.Google Scholar
- 33.Hattori H, Matsuzaki A, Suminoe A, Ihara K, Nakayama H, Hara T. High expression of platelet-derived growth factor and transforming growth factor-beta 1 in blast cells from patients with Down syndrome suffering from transient myeloproliferative disorder and organ fibrosis. Br J Haematol. 2001;115:472–5.PubMedCrossRefGoogle Scholar