The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient
Key Clinical Message 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 i...
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Wiley
2024-10-01
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| Online Access: | https://doi.org/10.1002/ccr3.9354 |
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| author | Yasmine Elsherif Ismail A. Ibrahim Omar Elsherif Hana J. Abukhadijah |
| author_facet | Yasmine Elsherif Ismail A. Ibrahim Omar Elsherif Hana J. Abukhadijah |
| author_sort | Yasmine Elsherif |
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| description | Key Clinical Message 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. Abstract 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. |
| format | Article |
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| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-10-01 |
| publisher | Wiley |
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| series | Clinical Case Reports |
| spelling | doaj-art-c5e7a2b9dec6471985fbee3ab94dc0432025-08-20T01:54:16ZengWileyClinical Case Reports2050-09042024-10-011210n/an/a10.1002/ccr3.9354The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patientYasmine Elsherif0Ismail A. Ibrahim1Omar Elsherif2Hana J. Abukhadijah3Internal medicine American Hospital Dubai (AHD) Dubai UAEFaculty of Health Sciences Fenerbahce University Istanbul TurkeyTbilisi State Medical University Tbilisi GeorgiaAcademic Health System Department Hamad Medical Corporation Doha QatarKey Clinical Message 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. Abstract 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.https://doi.org/10.1002/ccr3.9354Anderson‐Fabry diseaseCDA type IIcongenital dyserythropoietic anemiaco‐occurrencegenetic distinctionlysosomal disorder |
| spellingShingle | Yasmine Elsherif Ismail A. Ibrahim Omar Elsherif Hana J. Abukhadijah The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient Clinical Case Reports Anderson‐Fabry disease CDA type II congenital dyserythropoietic anemia co‐occurrence genetic distinction lysosomal disorder |
| 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 | unlikely combination anderson fabry disease and congenital dyserythropoietic anemia type ii in a pediatric patient |
| topic | Anderson‐Fabry disease CDA type II congenital dyserythropoietic anemia co‐occurrence genetic distinction lysosomal disorder |
| url | https://doi.org/10.1002/ccr3.9354 |
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