Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

Autor: Crane HM; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Asher S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Conway L; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Drivas TG; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Kallish S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63574. Date of Electronic Publication: 2024 Mar 04.
DOI: 10.1002/ajmg.a.63574
Abstrakt: RBCK1-related disease is a rare, multisystemic disorder for which our current understanding of the natural history is limited. A number of individuals initially carried clinical diagnoses of glycogen storage disease IV (GSD IV), but were later found to harbor RBCK1 pathogenic variants, demonstrating challenges of correctly diagnosing RBCK1-related disease. This study carried out a phenotypic comparison between RBCK1-related disease and GSD IV to identify features that clinically differentiate these diagnoses. Literature review and retrospective chart review identified 25 individuals with RBCK1-related disease and 36 with the neuromuscular subtype of GSD IV. Clinical features were evaluated to assess for statistically significant differences between the conditions. At a system level, any cardiac, autoinflammation, immunodeficiency, growth, or dermatologic involvement were suggestive of RBCK1, whereas any respiratory involvement suggested GSD IV. Several features warrant further exploration as predictors of RBCK1, such as generalized weakness, heart transplant, and recurrent infections, among others. Distinguishing RBCK1-related disease will facilitate correct diagnoses and pave the way for accurately identifying affected individuals, as well as for developing management recommendations, treatment, and an enhanced understanding of the natural history. This knowledge may also inform which individuals thought to have GSD IV should undergo reevaluation for RBCK1.
(© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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