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Erschienen in: Sleep and Breathing 4/2019

22.07.2019 | Original Article

Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

verfasst von: Till Koehne, Sarah Müller-Stöver, Anja Köhn, Katharina Stumpfe, Susanne Lezius, Carmen Schmid, Zoltan Lukacs, Bärbel Kahl-Nieke, Nicole Muschol

Erschienen in: Sleep and Breathing | Ausgabe 4/2019

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Abstract

Objectives

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder characterized by severe multi-systemic organ manifestations including obstructive sleep apnea syndrome (OSAS). Hematopoietic stem cell transplantation (HSCT) is the treatment of choice in severe MPS I (MPS IH, Hurler syndrome). However, the effect of HSCT on OSAS in MPS IH still remains unclear. The purpose of this study was to analyze respiratory patterns during sleep following HSCT in MPS IH children and to relate these findings to craniofacial abnormalities.

Methods

Overnight polysomnographies of nine MPS IH children (mean age: 8.2 years) previously treated with HSCT were retrospectively analyzed. Magnetic resonance images of the head were assessed with regard to soft and hard tissue abnormalities of the upper respiratory tract.

Results

The mean apnea hypopnea index (AHI) was 5.3 events/h (range, 0.3–12.2), and the majority of apnea/hypopneas were obstructive. Whereas two patients had severe OSAS (AHI > 10) and two moderate OSAS (5 > AHI < 10), five patients had no evidence of OSAS (AHI < 2.0). Donor cell chimerism was significantly lower in MPS IH patients with OSAS as compared to patients without OSAS (p < 0.001). The upper airway space and the maxilla were significantly smaller and the adenoids larger in MPS IH patients with OSAS as compared to those of non-OSAS patients.

Conclusion

OSAS was only observed in MPS IH patients with graft failure or low donor cell chimerism. Conversely, successful HSCT seems to ameliorate adenoid hyperplasia and maxillary constriction in MPS IH patients and thereby minimizes the risk of OSAS at least at younger ages.
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Literatur
1.
Zurück zum Zitat McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE (1972) Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet 1(7758):993–996CrossRefPubMed McKusick VA, Howell RR, Hussels IE, Neufeld EF, Stevenson RE (1972) Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet 1(7758):993–996CrossRefPubMed
11.
Zurück zum Zitat Lukacs Z (2008) Mucopolysaccharides. In: Blau N, Duran M, Gibson KM (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin, pp 287–324CrossRef Lukacs Z (2008) Mucopolysaccharides. In: Blau N, Duran M, Gibson KM (eds) Laboratory guide to the methods in biochemical genetics. Springer, Berlin, pp 287–324CrossRef
12.
Zurück zum Zitat Clark JR, Scott SD, Jack AL, Lee H, Mason J, Carter GI, Pearce L, Jackson T, Clouston H, Sproul A, Keen L, Molloy K, Folarin N, Whitby L, Snowden JA, Reilly JT, Barnett D, United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Working G (2015) Monitoring of chimerism following allogeneic haematopoietic stem cell transplantation (HSCT): technical recommendations for the use of short tandem repeat (STR) based techniques, on behalf of the United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Working Group. Br J Haematol 168(1):26–37. https://doi.org/10.1111/bjh.13073 CrossRefPubMed Clark JR, Scott SD, Jack AL, Lee H, Mason J, Carter GI, Pearce L, Jackson T, Clouston H, Sproul A, Keen L, Molloy K, Folarin N, Whitby L, Snowden JA, Reilly JT, Barnett D, United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Working G (2015) Monitoring of chimerism following allogeneic haematopoietic stem cell transplantation (HSCT): technical recommendations for the use of short tandem repeat (STR) based techniques, on behalf of the United Kingdom National External Quality Assessment Service for Leucocyte Immunophenotyping Chimerism Working Group. Br J Haematol 168(1):26–37. https://​doi.​org/​10.​1111/​bjh.​13073 CrossRefPubMed
13.
Zurück zum Zitat Rechtschaffen A, Kales A (1968) A manual of standardized terminology: techniques and scoring systems for sleep stages of human subjects. UCLA Brain Information Services/Brain Research Institute, Los Angeles Rechtschaffen A, Kales A (1968) A manual of standardized terminology: techniques and scoring systems for sleep stages of human subjects. UCLA Brain Information Services/Brain Research Institute, Los Angeles
15.
Zurück zum Zitat Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF, Redline S, Strohl KP, Davidson Ward SL, Tangredi MM, American Academy of Sleep M (2012) Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 8(5):597–619. https://doi.org/10.5664/jcsm.2172 CrossRefPubMedPubMedCentral Berry RB, Budhiraja R, Gottlieb DJ, Gozal D, Iber C, Kapur VK, Marcus CL, Mehra R, Parthasarathy S, Quan SF, Redline S, Strohl KP, Davidson Ward SL, Tangredi MM, American Academy of Sleep M (2012) Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med 8(5):597–619. https://​doi.​org/​10.​5664/​jcsm.​2172 CrossRefPubMedPubMedCentral
16.
Zurück zum Zitat Savara BS, Tracy WE (1967) Norms of size and annual increments for five anatomical measures of the mandible in boys from three to sixteen years of age. Arch Oral Biol 12(4):469–486CrossRefPubMed Savara BS, Tracy WE (1967) Norms of size and annual increments for five anatomical measures of the mandible in boys from three to sixteen years of age. Arch Oral Biol 12(4):469–486CrossRefPubMed
21.
22.
Zurück zum Zitat Keith O, Scully C, Weidmann GM (1990) Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). Oral Surg Oral Med Oral Pathol 70(1):70–74CrossRefPubMed Keith O, Scully C, Weidmann GM (1990) Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). Oral Surg Oral Med Oral Pathol 70(1):70–74CrossRefPubMed
23.
Zurück zum Zitat Santamaria F, Andreucci MV, Parenti G, Polverino M, Viggiano D, Montella S, Cesaro A, Ciccarelli R, Capaldo B, Andria G (2007) Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30(5):743–749. https://doi.org/10.1007/s10545-007-0555-5 CrossRefPubMed Santamaria F, Andreucci MV, Parenti G, Polverino M, Viggiano D, Montella S, Cesaro A, Ciccarelli R, Capaldo B, Andria G (2007) Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis 30(5):743–749. https://​doi.​org/​10.​1007/​s10545-007-0555-5 CrossRefPubMed
24.
Zurück zum Zitat Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ (2015) Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 125(13):2164–2172. https://doi.org/10.1182/blood-2014-11-608075 CrossRefPubMed Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ (2015) Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood 125(13):2164–2172. https://​doi.​org/​10.​1182/​blood-2014-11-608075 CrossRefPubMed
27.
Zurück zum Zitat Cistulli PA, Palmisano RG, Poole MD (1998) Treatment of obstructive sleep apnea syndrome by rapid maxillary expansion. Sleep 21(8):831–835CrossRefPubMed Cistulli PA, Palmisano RG, Poole MD (1998) Treatment of obstructive sleep apnea syndrome by rapid maxillary expansion. Sleep 21(8):831–835CrossRefPubMed
Metadaten
Titel
Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
verfasst von
Till Koehne
Sarah Müller-Stöver
Anja Köhn
Katharina Stumpfe
Susanne Lezius
Carmen Schmid
Zoltan Lukacs
Bärbel Kahl-Nieke
Nicole Muschol
Publikationsdatum
22.07.2019
Verlag
Springer International Publishing
Erschienen in
Sleep and Breathing / Ausgabe 4/2019
Print ISSN: 1520-9512
Elektronische ISSN: 1522-1709
DOI
https://doi.org/10.1007/s11325-019-01900-9

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