Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate
<p>Body height of MPS I patients after HSCT (red lines; arrow—time of HSCT) with comparison with untreated patients (blue line).</p> "> Figure 2
<p>Body height of MPS II patients after HSCT (red lines; arrow—time of HSCT) with comparison with untreated patients (blue line).</p> "> Figure 3
<p>Changes in GAG electrophoresis in MPS I patients after HSCT and ERT. Abbreviations: SCh—chondroitin sulphate; SD—dermatan sulphate; SH—heparan sulphate; GAG—glycosaminoglycan; ERT—enzyme replacement therapy; HSCT—hematopoietic stem cell transplantation. (<b>A</b>) 1—before treatment; 2—after 2 years of HSCT; 3—after 4 years of HSCT. (<b>B</b>) 1—before treatment; 2—after 2 years of HSCT; 3—after 3 years of HSCT. (<b>C</b>) 1—before treatment; 2—control sample; 3—after 11 years of ERT; 4—after 21 years of ERT. (<b>D</b>) 1—control sample; 2—before treatment; 3—after 11 years of ERT; 4—after 21 years of ERT.</p> "> Figure 4
<p>Changes in GAG electrophoresis in MPS II patients after HSCT and ERT. Abbreviations: SCh—chondroitin sulphate; SD—dermatan sulphate; SH—heparan sulphate; GAG—glycosaminoglycan; ERT—enzyme replacement therapy; HSCT—hematopoietic stem cell transplantation. (<b>A</b>) 1—before treatment; 2—after 9 months of HSCT. (<b>B</b>) 1—before treatment; 2—after 3 years of HSCT; 3—after 3 years and 4 months of HSCT. (<b>C</b>) 1—before treatment; 2—after 7.5 years of ERT; 3—after. 2.5 years of ERT; 4—after 16 years of ERT; 5—after 21 years of ERT. (<b>D</b>) 1—before treatment; 2—after 1.5 years of ERT; 3—after 3 years of ERT; 4—after 4.5 years of ERT. (<b>E</b>) 1—before treatment; 2—after 6 years of HSCT; 3—after 10 years of HSCT. (<b>F</b>) 1—MPS II without treatment.</p> ">
Abstract
:1. Introduction
2. Material and Methods
2.1. Anthropometric Measurements
2.2. GAG Electrophoresis
3. Patient Characteristics
3.1. Overall Characteristics
3.2. Clinical Outcome
3.3. Anthropometric Phenotype
3.4. Urinary GAG Electrophoresis
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Patient No. Type of MPS Genotype | Age | Anthropometric Analyses | Alpha-Iduronidase (MPS I) or Iduronate 2-Sulfatase (MPS II) Activity in DBS | Alpha-Iduronidase (MPS I) or Iduronate 2-Sulfatase (MPS II) Activity in Leukocytes | GAGs in Urine—Quantitative Analysis with DMB | GAGs in Urine—Semi-Quantitative Analysis with Cetylpyridinium Chloride | GAGs Electrophoresis | Clinical Outcome |
---|---|---|---|---|---|---|---|---|
1 MPS I c.208C > T, p.(Gln70*)/ c.208C > T, p.(Gln70*) | 13 m | Weight 10.9 kg (50 pc) Height 79.5 cm (50 pc) | <1.1 (limit of quantification) µmol/L/h (ref. > 3.0 µmol/L/h) | 10 nmol/mg protein/18 h (129 ± 40.5) | 158.7 (4.21–18.7) mg/mmol creatinine) | 699 (151 ± 77) mg/g creatinine | DS and subtle HS | inguinal hernia, subtle corneal clouding, thickened mitral valve, mild liver enlargement, limited range of motion in the glenohumeral joints |
5.5 y (3 y after HSCT) | Weight 21.2 kg (50 pc) Height 113.8 cm (35 pc) | 1.7 µmol/L/h (ref. > 3.0 µmol/L/h) | 180 nmol/mg protein/18 h (129 ± 40.5) | 17.6 (4.21–18.7 mg/mmol creatinine) | 55 (113 ± 46) mg/g creatinine | Normal results | stable thickening of mitral valve, corneal opacity over the entire surface, qualification for adenotomy, normal cognitive development, stable limitation of the range of motion in the glenohumeral joints, narrowing of the spinal canal (5.5 y) | |
2 MPS I c.208C > T, p.(Gln70*)/ c.208C > T, p.(Gln70*) | 14 m | Weight 11.6 kg (50–75 pc) Height 80.5 cm (50–75 pc) | <1.1 (limit of quantification) µmol/L/h (ref. > 3.0 µmol/L/h) | 9.72 nmol/mg protein/18 h (129 ± 40.5) | 137 (4.21–18.7) mg/mmol creatinine) | 648 (151 ± 77) mg/g creatinine | DS and subtle HS | bilateral hearing loss, thickened mitral valve, mild liver enlargement, limited range of motion in the glenohumeral joints |
5.5 y | Weight 20.3 kg (19 pc) Height 109.2 cm (12 pc) | 5.9 µmol/L/h (ref. > 3.0 µmol/L/h) | 178 nmol/mg protein/18 h (129 ± 40.5) | 16.4 (4.21–18.7 mg/mmol creatinine) | 55 (113 ± 46) mg/g creatinine | Traces of DS and HS | mild hearing loss, carpal tunnel syndrome diagnosed at 5 y, normal cognitive development, stable limitation of the range of motion in the glenohumeral joints, carpal tunnel syndromne (5 y) | |
3 MPS I c.208C > T, p.(Gln70*)/ c.208C > T, p.(Gln70*) | 13 m | Weight 10.3 kg (10–25 pc) Height 80.6 cm (75–90 pc) | <1.1 (limit of quantification) µmol/L/h (ref. > 3.0 µmol/L/h) | 0.01 nmol/mg protein/18 h (129 ± 40.5) | 253 (4.21–18.7) mg/mmol creatinine) | 1603 (151 ± 77) mg/g creatinine | DS | Thickened mitral valve, bilateral hearing loss, corneal clouding, mild liver enlargement, limited range of motion in the glenohumeral joints |
12 y | Weight 40.2 kg (77 pc) Height 137.2 cm (34 pc) | 3.9 µmol/L/h (ref. > 3.0 µmol/L/h) | 87 nmol/mg protein/18 h (129 ± 40.5) | 15.3 (4.21–18.7 mg/mmol creatinine) | 66 (115 ± 61) mg/g creatinine | Normal results | no carpal tunnel syndrome, progressive thoracic kyphosis, bilateral hip dysplasia, normal intellectual development, stable thickening of mitral valve | |
4 MPS I c.208C > T, p.(Gln70*)/ c.208C > T, p.(Gln70*) | 12 y (age at diagnosis: 16 months) | Weight 49.7 kg (78 pc) Height 144.3 cm (10 pc) | 4.1 µmol/L/h (ref. > 3.0 µmol/L/h) | 132 nmol/mg protein/18 h (129 ± 40.5) | 9.6 (4.21–18.7 mg/mmol creatinine) | 134 (115 ± 61) mg/g creatinine | Normal results | Bilateral hip dysplasia, progressive lumbar lordosis, mild hearing loss, corneal opacity over the entire surface, carpal tunnel syndrome (12 y), normal intellectual development |
5 MPS II c.1134_1152dup, p.(Asp385ProfsX7) | 14 m | Weight 15.3 kg (90–97 pc) Height 86.5 cm (>97 pc) | <0.8 (limit of detection) µmol/L/h (ref. > 5.6 µmol/L/h) | 2.8 nmol/mg protein/4 h (354 ± 85.9) | 111.7 (9.52–26.9 mg/mmol creatinine) | 944 (151 ± 77) mg/g creatinine | DS, HS | limited range of motion in the glenohumeral joints, qualified for adenectomy, mild liver enlargement, thickened mitral valve |
5 y (3 y after HSCT) | Weight 20.1 kg (62 pc) Height 116.2 cm (91 pc) | 3.1 µmol/L/h (ref. > 5.6 µmol/L/h) | 28.8 nmol/mg protein/4 h (354 ± 85.9) | 13.2 (9.52–26.9 mg/mmol creatinine) | 207 (151 ± 77) mg/g creatinine | Normal results | normal intellectual development, stable limitation of the range of motion in the glenohumeral joints, stable thickening of the mitral valve | |
6 MPS II IDS, loss of exons 01 to 08 | 14 m | Weight 15.3 kg (90–97 pc) Height 86.5 cm (>97 pc) | <2.8 (limit of quantification) µmol/L/h (ref. > 5.6 µmol/L/h) | 2.8 nmol/mg protein/4 h (354 ± 85.9) | 103.7 (9.52–26.9 mg/mmol creatinine) | 957 (151 ± 77) mg/g creatinine | DS, HS | moderate hearing loss, qualified for adenectomy, unilateral hip dysplasia, limited range of motion in the glenohumeral and hip joints, mild liver enlargement, thickened mitral valve |
3 y 2 m (1 y and 3 m after HSCT) | Weight 22.3 kg (>97 pc) Height 102.8 cm (92 pc) | 4.2 µmol/L/h (ref. > 3.0 µmol/L/h) | 35.9 nmol/mg protein/4 h (354 ± 85.9) | 13.2 (9.52–26.9 mg/mmol creatinine) | 226 (151 ± 77) mg/g creatinine | Normal results | moderate hearing loss, hearing aids, stable limitation of the range of motion in the glenohumeral and hip joints, stable thickening of mitral valve |
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Lipiński, P.; Różdżyńska-Świątkowska, A.; Ługowska, A.; Marucha, J.; Drabko, K.; Tylki-Szymańska, A. Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate. Diagnostics 2024, 14, 1956. https://doi.org/10.3390/diagnostics14171956
Lipiński P, Różdżyńska-Świątkowska A, Ługowska A, Marucha J, Drabko K, Tylki-Szymańska A. Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate. Diagnostics. 2024; 14(17):1956. https://doi.org/10.3390/diagnostics14171956
Chicago/Turabian StyleLipiński, Patryk, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, and Anna Tylki-Szymańska. 2024. "Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate" Diagnostics 14, no. 17: 1956. https://doi.org/10.3390/diagnostics14171956