RESUMO
OBJECTIVES: Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth. STUDY DESIGN: The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered. RESULTS: No pathogenic variants were detected in C1S and C1R genes then ES revealed a new homozygous missense variant in the CAT gene segregating in the family, c .635 T > G (p.Met212Arg). CONCLUSION: We describe the first Egyptian cases with acatalasemia and expand the mutational spectrum of this rare disorder. Premature loss of teeth is an emerging finding in our cases and addresses the hazardous systemic manifestations associated with the disorder. The rarity of inherited orodental diseases renders the accurate diagnosis difficult and complicates the symptoms. Therefore, the use of advanced molecular technologies is highly advisable for early diagnosis and management of patients.
Assuntos
Acatalasia , Catalase , Mutação de Sentido Incorreto , Linhagem , Periodontite , Adolescente , Criança , Feminino , Humanos , Masculino , Acatalasia/complicações , Acatalasia/genética , Catalase/genética , Consanguinidade , Egito , Sequenciamento do Exoma , Gangrena/genética , Úlceras Orais/genética , Periodontite/complicações , Periodontite/genéticaRESUMO
Peripheral gangrene is rare in children. Protein C, protein S, and antithrombin deficiency, positivity for anticardiolipin antibodies or lupus anticoagulant and factor V Leiden mutation are important causes of thrombosis in the venous system. There is paucity of literature on the contribution of these factors in children with peripheral gangrene. We evaluated the role of aforementioned factors in children with peripheral gangrene. Protein S deficiency was seen in one case and another was transiently positive for lupus anticoagulant. None of the 11 age- and sex-matched normal controls had protein C, protein S, or antithrombin deficiency. Our results indicate that deficiency of protein C, protein S, and antithrombin, and positivity for anticardiolipin antibodies, lupus anticoagulant, and factor V Leiden are uncommon causes of peripheral gangrene in children in north-western India. Fibrinolytic and antiplatelet parameters were not tested. Testing for these may yield further clues to the etiology of this condition.
Assuntos
Gangrena/sangue , Deficiência de Proteína S/sangue , Adolescente , Anticorpos Anticardiolipina/sangue , Deficiência de Antitrombina III/sangue , Deficiência de Antitrombina III/genética , Criança , Pré-Escolar , Fator V/genética , Fator V/metabolismo , Feminino , Gangrena/genética , Humanos , Lactente , Inibidor de Coagulação do Lúpus/sangue , Masculino , Mutação , Proteína C/genética , Proteína C/metabolismo , Proteína S/genética , Proteína S/metabolismo , Deficiência de Proteína S/genética , Estudos RetrospectivosRESUMO
A significantly higher frequency of baseline sister chromatid exchange (SCE) was found in the cultured lymphocytes of 13 Blackfoot disease patients (BFP) in comparison with that of healthy persons (HP). Twelve of these BFP consumed well water containing a high concentration of arsenic for 15 years or longer and had switched to drinking tap water 12 years before the time of this study. Sodium arsenite was found to be effective in increasing the SCE frequency and delaying the cell growth of the lymphocytes from both BFP and HP. However, the SCE increment induced by sodium arsenite as well as the progression of the cell divisions in the cultured lymphocytes showed no significant difference between BFP and HP.