ABSTRACT
INTRODUCCIÓN: La Hiperplasia suprarrenal congénita (HSC) es una enfermedad autosómica recesiva cuya principal causa es la deficiencia de 21-hidroxilasa, quien participa en la síntesis del cortisol y aldosterona. Se describen dos formas de HSC, una clásica y otra no clásica, siendo la primera el objetivo de análisis a lo largo del caso clínico. Sus manifestaciones clínicas varían en gravedad, dependiendo del nivel de deficiencia hormonal. Dentro de la clásica se describe la forma perdedora de sal, cuyas consecuencias son el exceso de andrógenos e insuficiencia de cortisol y mineral o corticoides. Así esta se puede manifestar como un trastorno de la diferenciación sexual (virilización de los genitales externos si el feto es femenino) e insuficiencia suprarrenal. Para su diagnóstico se consideran los antecedentes familiares, manifestaciones clínicas, medición de los niveles de 17-hidroxiprogesterona y la detección de la alteración genética. PRESENTACIÓN DEL CASO: Paciente con antecedentes familiares de hermano con HSC, nace con un trastorno de la diferenciación sexual y es dado de alta con sexo legal masculino. Después de 3 meses desarrolla una insuficiencia suprarrenal, diagnosticándose HSC forma clásica perdedora de sal y por cariotipo se determina sexo femenino. DISCUSIÓN: Los pilares del manejo de la HSC son el consejo genético en las familias con riesgo, el tratamiento antenatal con dexametasona, terapia postnatal con glucocorticoides y el tratamiento quirúrgico de las alteraciones de los genitales externos, junto con las nuevas investigaciones en base a terapia genética y el uso de células madre, requiriendo de este modo la HSC una vista integral.
INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are androgen excess and insufficiency of cortisol and mineral o corticoids. So this may manifest as a sex differentiation disorder (virilization of the external genitalia if the fetus is female) and adrenal insufficiency. For diagnosis are considered the family history, clinical manifestations, measuring 17-hydroxyprogesterone levels and detection of genetic alteration. CASE REPORT: Patient with a family history of a brother with HSC brother, born with a disorder of sexual differentiation and is discharged with legal male sex. After three months develops adrenal insufficiency and was diagnosed with classical HSC salt-wasting form and determined female karyotype. DISCUSSION: The Pillars of the HSC are handling genetic counseling in families at risk, prenatal treatment with dexamethasone, postnatal glucocorticoid therapy and surgical treatment of disorders of the external genitalia, along with new research based therapy gene and the use of stem cells, requiring this way an integral view of HSC.
Subject(s)
Humans , Female , Infant , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/therapy , Disorders of Sex Development/etiology , Genetic Counseling , Hydrocortisone/therapeutic useABSTRACT
Background: Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50).
Subject(s)
Humans , Male , Female , Diabetes Mellitus, Type 1 , Ethnicity , Genetic Markers , ChileABSTRACT
Background: Advanced glycation end products are associated with chronic complications of diabetes mellitus. This glycation process renders many proteins immunogenic. Aim: To detect the presence of antibodies against albumin, collagen and low density lipoprotein glycation products in boys and teenagers with diabetes mellitus. Patients and methods : Thirty one patients with diabetes mellitus type I, aged 11ñ3.8 years and with a mean duration of disease of 3.7ñ2.7 years and 31 healthy controls aged 12.4ñ5.3 years were studied. Antibodies against glycation end products were detected by ELISA and results were expressed as a ratio of the optical density of the glycated protein/optical density of the native protein. Results : Diabetic patients and healthy controls did not have antibodies against albumin glycation end products. Diabetics had higher levels of antibodies than controls for collagen glycation end products (2.6ñ0.4 and 1.8ñ0.2 respectively, p< 0.01) and low density lipoprotein glycation end products (3.07ñ0.92 and 2.2ñ0.72 respectively, p< 0.05). Conclusions: The biological role of these antibodies is not clear. They could be a depuration mechanism for glycation end products or contribute to chronic complications of diabetes mellitus
Subject(s)
Humans , Male , Female , Child, Preschool , Adolescent , Autoantibodies/blood , Diabetes Mellitus, Type 1/immunology , Glycation End Products, Advanced/immunology , Enzyme-Linked Immunosorbent Assay , Case-Control StudiesABSTRACT
Background: Celiac disease is more common in patients with insulindependent diabetes than in the general population. Aim: To detect celiac disease in diabetic children and adolescent. Patients and methods: Iga antigliadin, IgG antireticulin and IgG antiendomysium antibodies were measured in 67 diabetic children (35 female), aged between 4 and 18 years old. Results : Only one male adolescent, aged years old, without gastrointestinal symptoms, had a significant elevation of antirecticulin and antiendomysium antibodies. His intestinal biopsy showed subtotal villous atrophy, consisten with celiac disease. Conclusions: The prevalence of celiac disease in these diabetic children is 1:67 (1.5 percent). Similar figures have been reported elsewhere