https://www.ncbi.nlm.nih.gov/pubmed/30912297 Neimann-Pick disease
Liver Transpl. 2019 Mar 26. doi: 10.1002/lt.25457. [Epub ahead of print]
The Effects of Liver Transplantation in Children with Niemann-Pick Disease Type B.
Liu Y1, Luo Y1, Xia L1, Qiu B1, Zhou T1, Feng M1, Xue F1, Chen X1, Han L1, Zhang J1, Xia Q1.

Abstract

We evaluated the effects of liver transplantation in children with Niemann-Pick disease (NPD) type B. From October 2006 to October 2018, 7 of 1512 children that received liver transplantation at Ren Ji Hospital were diagnosed as NPD type B. The median age at diagnosis is 12-month (6-14 months) with initial presentations of hepatosplenomegaly, growth retardation, repeated pneumonia and diarrhea. Even after comprehensive supporting treatments, all patients developed liver dysfunction, severe interstitial pulmonary disease, compromised lung function and hypersplenism, with hypertriglyceridemia in four patients. They were transferred to our hospital for transplantation (median age 6.5-year-old, ranging 2.2-8.6 yrs.). Among them, 4 patients received living donor liver transplantation and 3 received orthotopic whole liver transplantation. Splenectomy was conducted spontaneously. All patients are alive with a median follow-up of 10 months (5-53 months). Liver function normalized within 3 weeks after transplantation and maintained stability. Thrombocytopenia and leukopenia were cured, as well as hypertriglyceridemia. Strikingly, pulmonary disease was relieved after transplantation, as evidenced by resolution of interstitial lung disease and restored lung function. Bronchitis occurred only once among the three patients with a quick recovery during follow-up. Catch-up growth was observed in all patients, especially in one male patient as his height z-score increased from -3.9 to -1, 4-years after transplantation. Patients with follow-up longer than 10 months indicated significant psychomotor ability improvement. Hypotonia was relieved in four patients after transplantation. However, intelligence development delay still exists in four patients during the follow-up. Three of them have been receiving intelligence recovery therapy, while the long-term effect needs more investigations. In conclusion, liver transplantation is a safe and effective treatment for NPD type B patients with severe liver and pulmonary dysfunction.