scholarly journals Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Kai Chen ◽  
Na Zhang ◽  
Jing-Bo Shao ◽  
Hong Li ◽  
Jie Li ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Clinical Manifestations ◽  
Hematopoietic Stem ◽  
Zellweger Spectrum Disorder

Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the PEX gene family. Patients with ZSD have profound neurologic impairments, including seizures, severe retardation, and dysmorphic features, and poor prognosis. Currently, there is no specific, effective treatment. Here, we investigated the effects of allogeneic hematopoietic stem cell transplantation (allo-HSCT) on PEX1-related ZSD. The suspected clinical proband was first diagnosed at the Department of Neurology of our hospital. The proband died soon after diagnosis, and his family was studied. We found that a brother had the same genetic alterations, and he was diagnosed with Infantile Refsum disease (IRD) as the mildest form of ZSD. We implemented treatment with allo-HSCT, at the request of the child's parents. After transplantation, we observed significant improvements in the clinical manifestations, very-long-chain fatty acids, and brain MRI. The patient has recovered well and not showed any abnormal clinical manifestations after 2 years of follow-up. We have achieved satisfactory short-term results in the treatment of ZSD-IRD with allo-HSCT. Long-term follow-up and observation will be performed to determine the long-term prognosis.

scholarly journals Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation

Blood ◽  
2010 ◽  
Vol 116 (1) ◽  
pp. 27-35 ◽  
Author(s):  
Victoria Bordon ◽  
Andrew R. Gennery ◽  
Mary A. Slatter ◽  
Els Vandecruys ◽  
Genevieve Laureys ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Clinical Manifestations ◽  
Hematopoietic Stem ◽  
Cartilage Hair Hypoplasia ◽  
Severe Immunodeficiency

Abstract Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disease caused by mutations in the RMRP gene. Beside dwarfism, CHH has a wide spectrum of clinical manifestations including variable grades of combined immunodeficiency, autoimmune complications, and malignancies. Previous reports in single CHH patients with significant immunodeficiencies have demonstrated that allogeneic hematopoietic stem cell transplantation (HSCT) is an effective treatment for the severe immunodeficiency, while growth failure remains unaffected. Because long-term experience in larger cohorts of CHH patients after HSCT is currently unreported, we performed a European collaborative survey reporting on 16 patients with CHH and immunodeficiency who underwent HSCT. Immune dysregulation, lymphoid malignancy, and autoimmunity were important features in this cohort. Thirteen patients were transplanted in early childhood (∼ 2.5 years). The other 3 patients were transplanted at adolescent age. Of 16 patients, 10 (62.5%) were long-term survivors, with a median follow-up of 7 years. T-lymphocyte numbers and function have normalized, and autoimmunity has resolved in all survivors. HSCT should be considered in CHH patients with severe immunodeficiency/autoimmunity, before the development of severe infections, major organ damage, or malignancy might jeopardize the outcome of HSCT and the quality of life in these patients.

scholarly journals Long-term follow-up of autologous hematopoietic stem cell transplantation for severe refractory Crohn's disease

2011 ◽  
Vol 5 (6) ◽  
pp. 543-549 ◽  
Author(s):  
Daniel W. Hommes ◽  
Marjolijn Duijvestein ◽  
Zuzana Zelinkova ◽  
Pieter C.F. Stokkers ◽  
Maartje Holsbergen-de Ley ◽  
...  
Keyword(s):  
Stem Cell ◽  
Crohn’S Disease ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Hematopoietic Stem ◽  
Long Term Follow Up

Negative Impact of Pre-Transplant Anemia on Long-Term Outcome after Allogeneic Hematopoietic Stem Cell Transplantation.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 1844-1844
Author(s):  
Chris Lazongas ◽  
Cindy J. Wong ◽  
David M. Sutton ◽  
Jeffrey H. Lipton ◽  
Anargyros Xenocostas ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Causes Of Death ◽  
Term Survival ◽  
Hematopoietic Stem

Abstract Background: Anemia is commonly present in patients with malignancies and is associated with reduced survival times. Recently, we described that low (<110 g/L) pre-transplant hemoglobin levels (PT-Hb) are associated with decreased early survival after allogeneic hematopoietic stem cell transplantation (alloHSCT)(Xenocostas et al. Transfusion2003;43:373–382). We are now presenting data on long-term survival and causes of death in BMT recipients with and without anemia prior to alloHSCT. Study Design and Methods: A retrospective analysis of 511 patients consecutively transplanted between January 1995 and March 2000 was performed to evaluate survival, cause of death, and PT-Hb. The end date for follow-up was June 2002. The median follow-up time was 993 days. Causes of death were categorized either as relapse, treatment-related mortality (TRM), or other. PT-Hb levels were determined within 2 weeks prior to transplantation, after commencing conditioning chemotherapy. Comparisons between groups were done using chi-squared tests. Results: The 180-day survival of patients with low PT-Hb levels (<110 g/L) was significantly worse than that of patients with PT-Hb levels ≥110 g/L (57.1% versus 83.1%, p<0.0001). The survival difference remained significant at 5 years (36.2% versus 59.4%, p<0.0001). The difference in 180-day survival was contributed to by an increase in TRM (36.1% versus 14.9%, p<0.0001) as well as a higher relapse rate (4.4% versus 0.3%, p=0.019 by Fisher’s exact test). For patients surviving more than 180 days, there was no difference in TRM (16.7% versus 16.7%, p=0.987) or relapse rate (12.0% versus 7.3%, p=0.150). No difference in the rate of other causes of death was found between the groups at either the 180-day or 5-year time points. Conclusions: Pre-transplant anemia is an independent risk factor for increased mortality following alloHSCT. Relapse and treatment-related deaths are both more likely to occur early in the post-transplant course of patients experiencing pre-transplant anemia. Differences in long-term survival are predominantly related to treatment-related deaths rather than relapse.

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