Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak Registry Article Swipe
Andreas Glenthøj
,
Rachael F. Grace
,
Carl Lander
,
Eduard J. van Beers
,
Bertil Glader
,
Kevin H.M. Kuo
,
Yan Yan
,
Bryan McGee
,
Audra Boscoe
,
Junlong Li
,
Paola Bianchi
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1111/bjh.19601
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1111/bjh.19601
Summary Pyruvate kinase (PK) deficiency, a rare, congenital haemolytic anaemia caused by mutations in the PKLR gene, is associated with many clinical manifestations, but the full disease burden has yet to be characterised. The Peak Registry (NCT03481738) is an observational, longitudinal registry of adult and paediatric patients with PK deficiency. Here, we described comorbidities and complications in these patients by age at most recent visit and PKLR genotype. As of 13 May 2022, 241 patients were included in the analysis. In total, 48.3% had undergone splenectomy and 50.5% had received chelation therapy. History of iron overload (before enrolment/during follow‐up) was common (52.5%), even in never‐transfused patients (20.7%). Neonatal complications and symptoms included jaundice, splenomegaly and hepatomegaly, with treatment interventions required in 41.5%. Among adults, osteopenia/osteoporosis occurred in 19.0% and pulmonary hypertension in 6.7%, with median onset ages of 37, 33 and 22 years, respectively. Biliary events and bone health problems were common across PKLR genotypes. Among 11 patients who had thromboembolic events, eight had undergone prior splenectomy. Patients with PK deficiency may have many complications, which can occur early in and throughout life. Awareness of their high disease burden may help clinicians better provide appropriate monitoring and management of these patients.
Related Topics
Concepts
Medicine
Pyruvate kinase deficiency
Splenectomy
Pediatrics
Osteoporosis
Internal medicine
Jaundice
Disease
Pyruvate kinase
Surgery
Glycolysis
Spleen
Metabolism
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/bjh.19601
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjh.19601
- OA Status
- hybrid
- Cited By
- 1
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399922214
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4399922214Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1111/bjh.19601Digital Object Identifier
- Title
-
Comorbidities and complications in adult and paediatric patients with pyruvate kinase deficiency: Analysis from the Peak RegistryWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-21Full publication date if available
- Authors
-
Andreas Glenthøj, Rachael F. Grace, Carl Lander, Eduard J. van Beers, Bertil Glader, Kevin H.M. Kuo, Yan Yan, Bryan McGee, Audra Boscoe, Junlong Li, Paola BianchiList of authors in order
- Landing page
-
https://doi.org/10.1111/bjh.19601Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjh.19601Direct link to full text PDF
- Open access
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YesWhether a free full text is available
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-
hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bjh.19601Direct OA link when available
- Concepts
-
Medicine, Pyruvate kinase deficiency, Splenectomy, Pediatrics, Osteoporosis, Internal medicine, Jaundice, Disease, Pyruvate kinase, Surgery, Glycolysis, Spleen, MetabolismTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.life. | 182 |
| abstract_inverted_index.occur | 177 |
| abstract_inverted_index.onset | 135 |
| abstract_inverted_index.prior | 165 |
| abstract_inverted_index.rare, | 6 |
| abstract_inverted_index.their | 185 |
| abstract_inverted_index.these | 57, 199 |
| abstract_inverted_index.visit | 64 |
| abstract_inverted_index.which | 175 |
| abstract_inverted_index.41.5%. | 121 |
| abstract_inverted_index.across | 152 |
| abstract_inverted_index.better | 192 |
| abstract_inverted_index.burden | 27, 188 |
| abstract_inverted_index.caused | 10 |
| abstract_inverted_index.common | 100, 151 |
| abstract_inverted_index.events | 145 |
| abstract_inverted_index.health | 148 |
| abstract_inverted_index.kinase | 2 |
| abstract_inverted_index.median | 134 |
| abstract_inverted_index.recent | 63 |
| abstract_inverted_index.total, | 81 |
| abstract_inverted_index.years, | 142 |
| abstract_inverted_index.(before | 96 |
| abstract_inverted_index.Biliary | 144 |
| abstract_inverted_index.History | 92 |
| abstract_inverted_index.Summary | 0 |
| abstract_inverted_index.adults, | 123 |
| abstract_inverted_index.anaemia | 9 |
| abstract_inverted_index.disease | 26, 187 |
| abstract_inverted_index.events, | 161 |
| abstract_inverted_index.provide | 193 |
| abstract_inverted_index.(20.7%). | 106 |
| abstract_inverted_index.(52.5%), | 101 |
| abstract_inverted_index.Neonatal | 107 |
| abstract_inverted_index.Patients | 167 |
| abstract_inverted_index.Pyruvate | 1 |
| abstract_inverted_index.Registry | 35 |
| abstract_inverted_index.clinical | 21 |
| abstract_inverted_index.included | 76, 111 |
| abstract_inverted_index.occurred | 125 |
| abstract_inverted_index.overload | 95 |
| abstract_inverted_index.patients | 46, 58, 74, 105, 157 |
| abstract_inverted_index.problems | 149 |
| abstract_inverted_index.received | 89 |
| abstract_inverted_index.registry | 41 |
| abstract_inverted_index.required | 119 |
| abstract_inverted_index.symptoms | 110 |
| abstract_inverted_index.therapy. | 91 |
| abstract_inverted_index.Awareness | 183 |
| abstract_inverted_index.analysis. | 79 |
| abstract_inverted_index.chelation | 90 |
| abstract_inverted_index.described | 52 |
| abstract_inverted_index.genotype. | 67 |
| abstract_inverted_index.jaundice, | 112 |
| abstract_inverted_index.mutations | 12 |
| abstract_inverted_index.patients. | 200 |
| abstract_inverted_index.pulmonary | 129 |
| abstract_inverted_index.treatment | 117 |
| abstract_inverted_index.undergone | 84, 164 |
| abstract_inverted_index.associated | 18 |
| abstract_inverted_index.clinicians | 191 |
| abstract_inverted_index.congenital | 7 |
| abstract_inverted_index.deficiency | 170 |
| abstract_inverted_index.genotypes. | 154 |
| abstract_inverted_index.haemolytic | 8 |
| abstract_inverted_index.management | 197 |
| abstract_inverted_index.monitoring | 195 |
| abstract_inverted_index.paediatric | 45 |
| abstract_inverted_index.throughout | 181 |
| abstract_inverted_index.appropriate | 194 |
| abstract_inverted_index.deficiency, | 4 |
| abstract_inverted_index.deficiency. | 49 |
| abstract_inverted_index.splenectomy | 85 |
| abstract_inverted_index.follow‐up) | 98 |
| abstract_inverted_index.hypertension | 130 |
| abstract_inverted_index.longitudinal | 40 |
| abstract_inverted_index.splenectomy. | 166 |
| abstract_inverted_index.splenomegaly | 113 |
| abstract_inverted_index.(NCT03481738) | 36 |
| abstract_inverted_index.comorbidities | 53 |
| abstract_inverted_index.complications | 55, 108 |
| abstract_inverted_index.hepatomegaly, | 115 |
| abstract_inverted_index.interventions | 118 |
| abstract_inverted_index.respectively. | 143 |
| abstract_inverted_index.characterised. | 32 |
| abstract_inverted_index.complications, | 174 |
| abstract_inverted_index.observational, | 39 |
| abstract_inverted_index.thromboembolic | 160 |
| abstract_inverted_index.manifestations, | 22 |
| abstract_inverted_index.enrolment/during | 97 |
| abstract_inverted_index.never‐transfused | 104 |
| abstract_inverted_index.osteopenia/osteoporosis | 124 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5086391077 |
| countries_distinct_count | 5 |
| institutions_distinct_count | 11 |
| corresponding_institution_ids | https://openalex.org/I2802567020, https://openalex.org/I2802709434 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8100000023841858 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.62989297 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |