Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with expe...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/12/2219 |
| _version_ | 1797380896744013824 |
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| author | Rafael de Marchi Tatiele Nalin Fernanda Sperb-Ludwig Franciele Cabral Pinheiro Ida Vanessa Doederlein Schwartz Carlos Eduardo Steiner |
| author_facet | Rafael de Marchi Tatiele Nalin Fernanda Sperb-Ludwig Franciele Cabral Pinheiro Ida Vanessa Doederlein Schwartz Carlos Eduardo Steiner |
| author_sort | Rafael de Marchi |
| collection | DOAJ |
| description | This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and complementary analysis, the overvaluation of a specific clinical finding (“false positive”) or the discarding of the diagnosis in the absence of it (“false negative”), as well as the lack of knowledge of the rarest GSD types, may have impacted the accuracy of the assessment. This study emphasized that characteristics considered as determinants in identifying the specific types or subtypes of GSD are not exclusive, thus becoming factors that may have induced the evaluators to misdiagnose. |
| first_indexed | 2024-03-08T20:43:36Z |
| format | Article |
| id | doaj.art-377ea6c7f70646bfb2fcb08463331612 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-08T20:43:36Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-377ea6c7f70646bfb2fcb084633316122023-12-22T14:11:22ZengMDPI AGGenes2073-44252023-12-011412221910.3390/genes14122219Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular TestingRafael de Marchi0Tatiele Nalin1Fernanda Sperb-Ludwig2Franciele Cabral Pinheiro3Ida Vanessa Doederlein Schwartz4Carlos Eduardo Steiner5Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, SP, BrazilDepartamento de Genética, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90010-150, RS, BrazilDepartamento de Genética, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90010-150, RS, BrazilDepartamento de Genética, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90010-150, RS, BrazilDepartamento de Genética, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 90010-150, RS, BrazilGenética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-970, SP, BrazilThis study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and complementary analysis, the overvaluation of a specific clinical finding (“false positive”) or the discarding of the diagnosis in the absence of it (“false negative”), as well as the lack of knowledge of the rarest GSD types, may have impacted the accuracy of the assessment. This study emphasized that characteristics considered as determinants in identifying the specific types or subtypes of GSD are not exclusive, thus becoming factors that may have induced the evaluators to misdiagnose.https://www.mdpi.com/2073-4425/14/12/2219inherited errors of metabolismGlycogen Storage Diseasenext-generation sequencingclinical manifestationsclinical diagnosisexpert opinion |
| spellingShingle | Rafael de Marchi Tatiele Nalin Fernanda Sperb-Ludwig Franciele Cabral Pinheiro Ida Vanessa Doederlein Schwartz Carlos Eduardo Steiner Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing Genes inherited errors of metabolism Glycogen Storage Disease next-generation sequencing clinical manifestations clinical diagnosis expert opinion |
| title | Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing |
| title_full | Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing |
| title_fullStr | Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing |
| title_full_unstemmed | Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing |
| title_short | Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing |
| title_sort | glycogen storage disease expert opinion on clinical diagnosis revisited after molecular testing |
| topic | inherited errors of metabolism Glycogen Storage Disease next-generation sequencing clinical manifestations clinical diagnosis expert opinion |
| url | https://www.mdpi.com/2073-4425/14/12/2219 |
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