Liver Transplantation in Patients With Niemann-Pick Disease – Single-Center Experience

Coelho, Gustavo; Praciano, A.M.; Rodrigues, John; Viana, Cyntia Ferreira Gomes; Brandão, K.P.; Valença, José Telmo; Garcia, José Huygens Parente

doi:10.1016/j.transproceed.2015.10.051

Cited by 17 publications

(17 citation statements)

References 17 publications

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“…It has been reported that LT could be valuable when chronic liver failure or decompensated cirrhosis was indicated, although little is known about the longterm course of the disease after transplantation. (8) In our report, LT relieved all clinical presentations in the patients with no major complication during the follow-up. Meanwhile, LDLT donors reported no complications and good working ability after operation.…”

Section: Discussionsupporting

confidence: 60%

“…(6,7) Liver transplantation (LT) was referred to patients with NPD type B with chronic liver failure or decompensated cirrhosis. (8,9) Here we report the effects of LT in children with NPD type B and pulmonary involvement. liu et al Abbreviations: ALT, alanine aminotransferase; ASM, acid sphingomyelinase; CT, computed tomography; DDST, Denver Developmental Screening Test; DQ, development quotient; FEV1, forced expiratory volume in 1 second; HDL, high-density lipoprotein; HSCT, hematopoietic stem cell transplantation; ICU, intensive care unit; IGF1, insulin-like growth factor 1; LDL, low-density lipoprotein; LDLT, living donor liver transplantation; LT, liver transplantation; NPD, Niemann-Pick disease; OLT, orthotopic liver transplantation; PT, prothrombin time; TB, total bilirubin; TG, triglyceride; WBC, white blood cell.…”

mentioning

confidence: 97%

“…Patients with severe phenotype, which is also classified as intermediate type A/B, may suffer delayed physical and neurological development at an early age . Liver transplantation (LT) was referred to patients with NPD type B with chronic liver failure or decompensated cirrhosis . Here we report the effects of LT in children with NPD type B and pulmonary involvement.…”

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confidence: 99%

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The Effects of Liver Transplantation in Children With Niemann‐Pick Disease Type B

et al. 2019

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We evaluated the effects of liver transplantation (LT) in children with Niemann‐Pick disease (NPD) type B. From October 2006 to October 2018, 7 of 1512 children who received LT at Ren Ji Hospital were diagnosed as NPD type B. The median age at diagnosis was 12 months (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 4 patients. They were transferred to our hospital for transplantation (median age, 6.5 years; range, 2.2‐8.6 years). Among them, 4 patients received living donor LT, and 3 received whole‐liver orthotopic LT. Splenectomy was conducted spontaneously. All patients are alive with a median follow‐up of 10 months (range, 5‐53 months). Liver function normalized within 3 weeks after transplantation and maintained stability. Thrombocytopenia and leukopenia were cured, as was 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 3 patients with a quick recovery during follow‐up. Catch‐up growth was observed in all patients, especially in 1 male patient, as his height z score increased from −3.9 to −1 at 4 years after transplantation. Patients with follow‐up longer than 10 months indicated significant psychomotor ability improvement. Hypotonia was relieved in 4 patients after transplantation. However, intelligence developmental delay still existed in 4 patients during the follow‐up. Three of them have been receiving intelligence recovery therapy, although the longterm effect needs more investigation. In conclusion, LT is a safe and effective treatment for patients with NPD type B with severe liver and pulmonary dysfunction.

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Section: Discussionsupporting

confidence: 60%

mentioning

confidence: 97%

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confidence: 99%

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The Effects of Liver Transplantation in Children With Niemann‐Pick Disease Type B

et al. 2019

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“…In addition to BMT, liver and amniotic cell transplantation also have been undertaken in ASM deficient NPD patients, although the outcomes of these procedures have not been fully described [75–78]. In one recent report [79], two adult type B NPD patients underwent liver transplants with some positive effects on liver function.…”

Section: Therapy For Types a And B Npdmentioning

confidence: 99%

Types A and B Niemann-Pick disease

Schuchman

Desnick

2017

Molecular Genetics and Metabolism

222

186

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The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic abnormalities that account for NPD. The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM; “types A & B” NPD), and the second is due to defective function in cholesterol transport (“type C” NPD). Herein only types A and B NPD will be discussed. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2–3 years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings. All patients with types A and B NPD have mutations in the gene encoding ASM (SMPD1), and thus the disease is more accurately referred to as ASM deficiency (ASMD). Herein we will review the clinical, pathological, biochemical, and genetic findings in types A and B NPD, and emphasize the seminal contributions of Dr. Brady to this disease. We will also discuss the current status of therapy for this disorder.

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“…In addition to BMT, liver and amniotic cell transplantation also have been undertaken in ASM deficient NPD patients, although the outcomes of these procedures have not been fully described [75][76][77][78]. In one recent report [79], two adult type B NPD patients underwent liver transplants with some positive effects on liver function.…”

Section: Historicalmentioning

confidence: 99%