ABSTRACT
BACKGROUND: Posterior subcapsular cataract (PSC) has been reported in patients on corticosteroids therapy for various pathologies. Autoimmune hepatitis (AIH) is a progressive inflammatory hepatic disease for which corticosteroids are recommended but PSC has not yet been reported in AIH patients on corticosteroids therapy. METHODS: The AIH patients at our service underwent an ophthalmological assessment and their files were analyzed establish the dosage and duration of medication, the presence of visual complaints and the type of AIH, in order to correlate these with the ophthalmological findings. Patients were examined with a slit lamp following pupil dilation. RESULTS: 17 AIH patients evaluated, only one patient had PSC. CONCLUSION: Although the frequency of PSC was low (1/17) in AIH patients on costicosteroid therapy, these individuals should undergo occasional ophthalmological assessment for the presence of cataracts since their visual acuity and quality of life may be adversely affected. (AU)
Subject(s)
Infant , Child, Preschool , Child , Adolescent , Humans , Male , Female , RESEARCH SUPPORT, NON-U.S. GOVT , Cataract/chemically induced , Adrenal Cortex Hormones/adverse effects , Hepatitis, Autoimmune/drug therapy , Adrenal Cortex Hormones/therapeutic useABSTRACT
BACKGROUND: Posterior subcapsular cataract (PSC) has been reported in patients on corticosteroids therapy for various pathologies. Autoimmune hepatitis (AIH) is a progressive inflammatory hepatic disease for which corticosteroids are recommended but PSC has not yet been reported in AIH patients on corticosteroids therapy. METHODS: The AIH patients at our service underwent an ophthalmological assessment and their files were analyzed establish the dosage and duration of medication, the presence of visual complaints and the type of AIH, in order to correlate these with the ophthalmological findings. Patients were examined with a slit lamp following pupil dilation. RESULTS: 17 AIH patients evaluated, only one patient had PSC. CONCLUSION: Although the frequency of PSC was low (1/17) in AIH patients on costicosteroid therapy, these individuals should undergo occasional ophthalmological assessment for the presence of cataracts since their visual acuity and quality of life may be adversely affected.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adrenal Cortex Hormones/adverse effects , Cataract/chemically induced , Hepatitis, Autoimmune/drug therapy , Adrenal Cortex Hormones/therapeutic useABSTRACT
BACKGROUND: Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic hepatitis or cirrhosis. A precise diagnosis of Alpha-1-antitrypsin deficiency may be obtained by biochemical or molecular analysis. OBJECTIVE: The purpose of this study was to use DNA analysis to examine the presence of an alpha-1-antitrypsin deficiency in 12 children suspected of having this deficiency and who showed laboratory and clinical characteristics of the disease. PATIENTS AND METHODS: Twelve patients, aged 3 months to 19 years, who had serum alpha-1-antitrypsin levels lower than normal and/or had hepatic disease of undefined etiology were studied. The mutant alleles S and Z of the alpha-1-antitrypsin gene were investigated in the 12 children. Alpha-1-antitrypsin gene organization was analyzed by amplification of genome through the polymerase chain reaction and digestion with the restriction enzymes Xmnl (S allele) and Taq-1 (Z allele). RESULTS: Seven of the 12 patients had chronic liver disease of undefined etiology and the other five patients had low serum levels of alpha-1-antitrypsin as well as a diagnosis of neonatal cholestasis and/or chronic liver disease of undefined etiology. Five of the 12 patients were homozygous for the Z allele (ZZ) and two had the S allele with another allele (*S) different from Z. CONCLUSION: These results show that alpha-1-antitrypsin deficiency is relatively frequent in children with chronic hepatic disease of undefined etiology and/or low alpha-1-antitrypsin levels (41.6%). A correct diagnosis is important for effective clinical follow-up and for genetic counseling.
