The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient
<h3>Key Clinical Message</h3><p dir="ltr">Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, n...
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2024
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| _version_ | 1864513542003097600 |
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| author | Yasmine Elsherif (22045415) |
| author2 | Ismail A. Ibrahim (17687436) Omar Elsherif (4164418) Hana J. Abukhadijah (22045418) |
| author2_role | author author author |
| author_facet | Yasmine Elsherif (22045415) Ismail A. Ibrahim (17687436) Omar Elsherif (4164418) Hana J. Abukhadijah (22045418) |
| author_role | author |
| dc.creator.none.fl_str_mv | Yasmine Elsherif (22045415) Ismail A. Ibrahim (17687436) Omar Elsherif (4164418) Hana J. Abukhadijah (22045418) |
| dc.date.none.fl_str_mv | 2024-10-08T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1002/ccr3.9354 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/The_unlikely_combination_Anderson_Fabry_disease_and_congenital_dyserythropoietic_anemia_type_II_in_a_pediatric_patient/29898632 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics Anderson- Fabry disease CDA type II congenital dyserythropoietic anemia co-occurrence genetic distinction lysosomal disorder |
| dc.title.none.fl_str_mv | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Key Clinical Message</h3><p dir="ltr">Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before. Therefore, screening is crucial for early management, and families should seek genetic counseling for children showing unusual presentations.</p><p dir="ltr">Anderson‐Fabry disease (AFD) is a rare condition, characterized by a lysosomal storage disorder affecting lipid storage. It manifests in two forms: classic (early‐onset) and nonclassic (late‐onset). Conversely, congenital dyserythropoietic anemia (CDA) is a rare blood disorder caused by ineffective erythropoiesis, which results in the production of abnormal erythroblasts during the maturation of red blood cells, with CDA type II being the most frequent type. Both disorders have well‐understood pathophysiologies, yet they are genetically distinct. AFD is inherited in an X‐linked manner, whereas CDA type II follows an autosomal recessive pattern of inheritance. Although both AFD and CDA type II have been reported separately in the literature. The co‐existence for both AFD and CDA type II has not been reported. We describe a 10‐year‐old boy, with both which is believed to be the first documented case.</p><h2>Other Information</h2><p dir="ltr">Published in: Clinical Case Reports<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/ccr3.9354" target="_blank">https://dx.doi.org/10.1002/ccr3.9354</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_9669898eda30d1553feaad09b0a0e97f |
| identifier_str_mv | 10.1002/ccr3.9354 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/29898632 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patientYasmine Elsherif (22045415)Ismail A. Ibrahim (17687436)Omar Elsherif (4164418)Hana J. Abukhadijah (22045418)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesPaediatricsAnderson- Fabry diseaseCDA type IIcongenital dyserythropoietic anemiaco-occurrencegenetic distinctionlysosomal disorder<h3>Key Clinical Message</h3><p dir="ltr">Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns. Their co‐occurrence is extremely rare, never been reported before. Therefore, screening is crucial for early management, and families should seek genetic counseling for children showing unusual presentations.</p><p dir="ltr">Anderson‐Fabry disease (AFD) is a rare condition, characterized by a lysosomal storage disorder affecting lipid storage. It manifests in two forms: classic (early‐onset) and nonclassic (late‐onset). Conversely, congenital dyserythropoietic anemia (CDA) is a rare blood disorder caused by ineffective erythropoiesis, which results in the production of abnormal erythroblasts during the maturation of red blood cells, with CDA type II being the most frequent type. Both disorders have well‐understood pathophysiologies, yet they are genetically distinct. AFD is inherited in an X‐linked manner, whereas CDA type II follows an autosomal recessive pattern of inheritance. Although both AFD and CDA type II have been reported separately in the literature. The co‐existence for both AFD and CDA type II has not been reported. We describe a 10‐year‐old boy, with both which is believed to be the first documented case.</p><h2>Other Information</h2><p dir="ltr">Published in: Clinical Case Reports<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1002/ccr3.9354" target="_blank">https://dx.doi.org/10.1002/ccr3.9354</a></p>2024-10-08T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1002/ccr3.9354https://figshare.com/articles/journal_contribution/The_unlikely_combination_Anderson_Fabry_disease_and_congenital_dyserythropoietic_anemia_type_II_in_a_pediatric_patient/29898632CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/298986322024-10-08T03:00:00Z |
| spellingShingle | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient Yasmine Elsherif (22045415) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics Anderson- Fabry disease CDA type II congenital dyserythropoietic anemia co-occurrence genetic distinction lysosomal disorder |
| status_str | publishedVersion |
| title | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| title_full | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| title_fullStr | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| title_full_unstemmed | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| title_short | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| title_sort | The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences Paediatrics Anderson- Fabry disease CDA type II congenital dyserythropoietic anemia co-occurrence genetic distinction lysosomal disorder |