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Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome

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Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome. / Grigull, Lorenz; Sykora, Karl-Walter; Tenger, Andreas; Bertram, Harald; Meyer-Marcotty, Max; Hartmann, Hans; Bültmann, Eva; Beilken, Andreas; Zivicnjak, Miroslaw; Mynarek, Martin; Osthaus, Alexander W; Schilke, Reinhard; Kollewe, Katja; Lücke, Thomas.

In: PEDIATR TRANSPLANT, Vol. 15, No. 8, 12.2011, p. 861-9.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Grigull, L, Sykora, K-W, Tenger, A, Bertram, H, Meyer-Marcotty, M, Hartmann, H, Bültmann, E, Beilken, A, Zivicnjak, M, Mynarek, M, Osthaus, AW, Schilke, R, Kollewe, K & Lücke, T 2011, 'Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome', PEDIATR TRANSPLANT, vol. 15, no. 8, pp. 861-9. https://doi.org/10.1111/j.1399-3046.2011.01595.x

APA

Grigull, L., Sykora, K-W., Tenger, A., Bertram, H., Meyer-Marcotty, M., Hartmann, H., Bültmann, E., Beilken, A., Zivicnjak, M., Mynarek, M., Osthaus, A. W., Schilke, R., Kollewe, K., & Lücke, T. (2011). Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome. PEDIATR TRANSPLANT, 15(8), 861-9. https://doi.org/10.1111/j.1399-3046.2011.01595.x

Vancouver

Grigull L, Sykora K-W, Tenger A, Bertram H, Meyer-Marcotty M, Hartmann H et al. Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome. PEDIATR TRANSPLANT. 2011 Dec;15(8):861-9. https://doi.org/10.1111/j.1399-3046.2011.01595.x

Bibtex

@article{f66c402c41984c52b5d7013585e34dcb,
title = "Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome",
abstract = "We report the results of a prospective, standardized follow-up programme of eight children (median age at SCT 1.2 yr) with mucopolysaccharidosis (MPS1H, M. Hurler) transplanted using a fludarabine-based SCT. SCT resulted in stable engraftment without transplant-related mortality. All patients are alive, engrafted and in ambulatory care. During follow-up (median five yr, 1.9-8 yr), six of eight showed developmental delay (two severe, two mild/no), all eight had spinal deformities and one received hip surgery for acetabular dysplasia. Hand surgery for carpal tunnel release and trigger digits was required in five of the patients. The cranio-cervical junction was narrowed in four patients, one child having already received surgery. CC was present in all patients prior to SCT. It remained unchanged in seven and regressed in one child. Severe cardiac dysfunction was present in two of the eight children before SCT. Cardiac pump function was normal in six patients and ameliorated in two, while valve abnormalities could be detected in six patients. Currently, transplantation seems no longer the major obstacle for MPS1H patients, but the variable musculoskeletal disease progression after successful SCT remains a challenge. Patients with Hurler syndrome need specialized follow-up care because of their manifold health problems. The standardized follow-up presented here is a step to optimize care for MPS children and their families after SCT.",
keywords = "Child, Preschool, Disease Progression, Female, Follow-Up Studies, Humans, Infant, Male, Mucopolysaccharidosis I, Stem Cell Transplantation, Transplantation, Homologous, Journal Article",
author = "Lorenz Grigull and Karl-Walter Sykora and Andreas Tenger and Harald Bertram and Max Meyer-Marcotty and Hans Hartmann and Eva B{\"u}ltmann and Andreas Beilken and Miroslaw Zivicnjak and Martin Mynarek and Osthaus, {Alexander W} and Reinhard Schilke and Katja Kollewe and Thomas L{\"u}cke",
note = "{\textcopyright} 2011 John Wiley & Sons A/S.",
year = "2011",
month = dec,
doi = "10.1111/j.1399-3046.2011.01595.x",
language = "English",
volume = "15",
pages = "861--9",
journal = "PEDIATR TRANSPLANT",
issn = "1397-3142",
publisher = "Wiley-Blackwell",
number = "8",

}

RIS

TY - JOUR

T1 - Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome

AU - Grigull, Lorenz

AU - Sykora, Karl-Walter

AU - Tenger, Andreas

AU - Bertram, Harald

AU - Meyer-Marcotty, Max

AU - Hartmann, Hans

AU - Bültmann, Eva

AU - Beilken, Andreas

AU - Zivicnjak, Miroslaw

AU - Mynarek, Martin

AU - Osthaus, Alexander W

AU - Schilke, Reinhard

AU - Kollewe, Katja

AU - Lücke, Thomas

N1 - © 2011 John Wiley & Sons A/S.

PY - 2011/12

Y1 - 2011/12

N2 - We report the results of a prospective, standardized follow-up programme of eight children (median age at SCT 1.2 yr) with mucopolysaccharidosis (MPS1H, M. Hurler) transplanted using a fludarabine-based SCT. SCT resulted in stable engraftment without transplant-related mortality. All patients are alive, engrafted and in ambulatory care. During follow-up (median five yr, 1.9-8 yr), six of eight showed developmental delay (two severe, two mild/no), all eight had spinal deformities and one received hip surgery for acetabular dysplasia. Hand surgery for carpal tunnel release and trigger digits was required in five of the patients. The cranio-cervical junction was narrowed in four patients, one child having already received surgery. CC was present in all patients prior to SCT. It remained unchanged in seven and regressed in one child. Severe cardiac dysfunction was present in two of the eight children before SCT. Cardiac pump function was normal in six patients and ameliorated in two, while valve abnormalities could be detected in six patients. Currently, transplantation seems no longer the major obstacle for MPS1H patients, but the variable musculoskeletal disease progression after successful SCT remains a challenge. Patients with Hurler syndrome need specialized follow-up care because of their manifold health problems. The standardized follow-up presented here is a step to optimize care for MPS children and their families after SCT.

AB - We report the results of a prospective, standardized follow-up programme of eight children (median age at SCT 1.2 yr) with mucopolysaccharidosis (MPS1H, M. Hurler) transplanted using a fludarabine-based SCT. SCT resulted in stable engraftment without transplant-related mortality. All patients are alive, engrafted and in ambulatory care. During follow-up (median five yr, 1.9-8 yr), six of eight showed developmental delay (two severe, two mild/no), all eight had spinal deformities and one received hip surgery for acetabular dysplasia. Hand surgery for carpal tunnel release and trigger digits was required in five of the patients. The cranio-cervical junction was narrowed in four patients, one child having already received surgery. CC was present in all patients prior to SCT. It remained unchanged in seven and regressed in one child. Severe cardiac dysfunction was present in two of the eight children before SCT. Cardiac pump function was normal in six patients and ameliorated in two, while valve abnormalities could be detected in six patients. Currently, transplantation seems no longer the major obstacle for MPS1H patients, but the variable musculoskeletal disease progression after successful SCT remains a challenge. Patients with Hurler syndrome need specialized follow-up care because of their manifold health problems. The standardized follow-up presented here is a step to optimize care for MPS children and their families after SCT.

KW - Child, Preschool

KW - Disease Progression

KW - Female

KW - Follow-Up Studies

KW - Humans

KW - Infant

KW - Male

KW - Mucopolysaccharidosis I

KW - Stem Cell Transplantation

KW - Transplantation, Homologous

KW - Journal Article

U2 - 10.1111/j.1399-3046.2011.01595.x

DO - 10.1111/j.1399-3046.2011.01595.x

M3 - SCORING: Journal article

C2 - 22112002

VL - 15

SP - 861

EP - 869

JO - PEDIATR TRANSPLANT

JF - PEDIATR TRANSPLANT

SN - 1397-3142

IS - 8

ER -