RESUMEN
BACKGROUND AND AIMS: Evaluation of incidence and correlates of severe hypoglycemia (SH) and diabetes ketoacidosis (DKA) in children and adolescents with T1DM. METHODS AND RESULTS: Retrospective study conducted in 29 diabetes centers from November 2011 to April 2012. The incidence of SH and DKA episodes and their correlates were assessed through a questionnaire administered to parents of patients aged 0-18 years. Incidence rates and incident rate ratios (IRRs) were estimated through multivariate Poisson regression analysis and multilevel analysis. Overall, 2025 patients were included (age 12.4 ± 3.8 years; 53% males; diabetes duration 5.6 ± 3.5 years; HbA1c 7.9 ± 1.1%). The incidence of SH and DKA were of 7.7 and 2.4 events/100 py, respectively. The risk of SH was higher in females (IRR = 1.44; 95%CI 1.04-1.99), in patients using rapid acting analogues as compared to regular insulin (IRR = 1.48; 95%CI 0.97-2.26) and lower for patients using long acting analogues as compared to NPH insulin (IRR = 0.40; 95%CI 0.19-0.85). No correlations were found between SH and HbA1c levels. The risk of DKA was higher in patients using rapid acting analogues (IRR = 4.25; 95%CI 1.01-17.86) and increased with insulin units needed (IRR = 7.66; 95%CI 2.83-20.74) and HbA1c levels (IRR = 1.63; 95%CI 1.36-1.95). Mother's age was inversely associated with the risk of both SH (IRR = 0.95; 95%CI 0.92-0.98) and DKA (IRR = 0.94; 95%CI 0.88-0.99). When accounting for center effect, the risk of SH associated with the use of rapid acting insulin analogues was attenuated (IRR = 1.48; 95%CI 0.97-2.26); 33% and 16% of the residual variance in SH and DKA risk was explained by center effect. CONCLUSION: The risk of SH and DKA is mainly associated with treatment modalities and strongly depends on the practice of specialist centers.
Asunto(s)
Diabetes Mellitus Tipo 1/epidemiología , Hipoglucemia/epidemiología , Cetosis/epidemiología , Adolescente , Niño , Preescolar , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Hipoglucemia/etiología , Hipoglucemiantes/uso terapéutico , Incidencia , Lactante , Insulina/uso terapéutico , Insulina Isófana/uso terapéutico , Italia/epidemiología , Cetosis/etiología , Masculino , Estudios RetrospectivosRESUMEN
AIMS/HYPOTHESIS: The aim of this study was to investigate the genetic aetiology of permanent diabetes mellitus with onset in the first 12 months of age. METHODS: We studied 46 probands with permanent, insulin-requiring diabetes with onset within the first 6 months of life (permanent neonatal diabetes mellitus [PNDM]/monogenic diabetes of infancy [MDI]) (group 1) and eight participants with diabetes diagnosed between 7 and 12 months of age (group 2). KCNJ11, INS and ABCC8 genes were sequentially sequenced in all patients. For those who were negative in the initial screening, we examined ERN1, CHGA, CHGB and NKX6-1 genes and, in selected probands, CACNA1C, GCK, FOXP3, NEUROG3 and CDK4. The incidence rate for PNDM/MDI was calculated using a database of Italian patients collected from 1995 to 2009. RESULTS: In group 1 we found mutations in KCNJ11, INS and ABCC8 genes in 23 (50%), 9 (19.5%) and 4 (8.6%) patients respectively, and a single homozygous mutation in GCK (2.1%). In group 2, we identified one incidence of a KCNJ11 mutation. No genetic defects were detected in other loci. The incidence rate of PNDM/MDI in Italy is estimated to be 1:210,287. CONCLUSIONS/INTERPRETATION: Genetic mutations were identified in ~75% of non-consanguineous probands with PNDM/MDI, using sequential screening of KCNJ11, INS and ABCC8 genes in infants diagnosed within the first 6 months of age. This percentage decreased to 12% in those with diabetes diagnosed between 7 and 12 months. Patients belonging to the latter group may either carry mutations in genes different from those commonly found in PNDM/MDI or have developed an early-onset form of autoimmune diabetes.
Asunto(s)
Diabetes Mellitus/etiología , Diabetes Mellitus/genética , Transportadoras de Casetes de Unión a ATP/genética , Diabetes Mellitus/epidemiología , Femenino , Predisposición Genética a la Enfermedad , Quinasas del Centro Germinal , Humanos , Lactante , Recién Nacido , Insulina/genética , Masculino , Mutación , Canales de Potasio de Rectificación Interna/genética , Proteínas Serina-Treonina Quinasas/genética , Receptores de Droga/genética , Receptores de SulfonilureasRESUMEN
We report a case of a newborn with unilateral laryngeal paralysis due to congenital varicella syndrome. The patient needed neonatal resuscitation with positive pressure ventilation for severe respiratory failure. Fiberoptic bronchoscopy showed left unilateral laryngeal paralysis. From the first week of life he presented left Horner's syndrome and difficult swallowing. He was hospitalised during the first 3 months of life for recurrent aspiration pneumonia and failure to thrive. At 11 months an ophthalmic evaluation with Ret-Cam showed a chorioretinal scar in the macular region that allowed the final diagnosis.
Asunto(s)
Varicela/congénito , Varicela/diagnóstico , Parálisis de los Pliegues Vocales/diagnóstico , Parálisis de los Pliegues Vocales/virología , Varicela/terapia , Humanos , Recién Nacido , Masculino , Respiración con Presión Positiva , Síndrome , Parálisis de los Pliegues Vocales/terapiaRESUMEN
A 4-month-old caucasian infant presented non-productive cough, fever associated with hemoptysis, and increasing anemia. He had mild tachypnoea; routine lab tests were normal. The thoracic HRCT scan showed a very large mass in the right lung adherent to the thorax wall, well defined and limiting the medium and upper lobe; the mass was well vascularized, and with central hypodensic areas. Fiberoptic bronchoscopy and bronchoalveolar lavage (BAL) cytology were normal. The definitive histology of the mass showed the presence of inflammatory cells admixed with fibroblasts and rare Touton giant cells in the lesion suggestive of a juvenile xanthogranuloma (JXG) of the lung.
Asunto(s)
Anemia/etiología , Tos/etiología , Hemoptisis/etiología , Enfermedades Pulmonares/diagnóstico , Xantogranuloma Juvenil/patología , Biopsia , Broncoscopía , Humanos , Lactante , Enfermedades Pulmonares/complicaciones , Masculino , Tomografía Computarizada por Rayos X , Xantogranuloma Juvenil/complicacionesRESUMEN
Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients collected through a population-based registry that covers three contiguous regions of North-East Italy (NEI-NF Registry). Auxometric traits of 528 NF1 patients have been measured with the aim of drawing growth charts for height, weight, and head circumference (OFC). Height velocity charts were based on a subset of 143 children who underwent multiple measurements. No differences in height were apparent between NF1 and normal subjects up to age 7 (girls) and 12 (boys) years; subsequently, the 50th centile of NF1 subjects tends to overlap with the 25th centile of normal subjects, and the 3rd centile is much lower in NF1 subjects than in normal subjects, mainly during adolescence. The negatively skewed distribution of height seems to indicate that height growth impairment affects only a proportion of NF1 subjects; height growth impairment does not seem related to disease severity. As for weight, our data suggest that slight overweight is a characteristic of adult NF1 subjects (mainly among males), independent of disease severity. Height growth velocity is normal during childhood for both sexes, whereas the pubertal spurt is slightly anticipated and reduced in NF1 boys but not in girls. Our data confirm previous observations that macrocrania affects most NF1 subjects; the shape of the head growth curve is similar in NF1 and normal girls, whereas NF1 boys present an OFC pubertal growth spurt much more pronounced and delayed than normal boys. The disproportion between OFC and height seems to be related to disease severity in boys but not in girls. Growth charts presented here can be useful in neurofibromatosis clinics for the identification of the effects of secondary growth disorders, for growth prognosis, and for the evaluation of the effects of a therapy such as GH therapy after radiotherapy for optic glioma.
Asunto(s)
Crecimiento/fisiología , Neurofibromatosis 1/fisiopatología , Adolescente , Adulto , Factores de Edad , Antropometría , Estatura , Peso Corporal , Cefalometría , Niño , Preescolar , Salud de la Familia , Femenino , Trastornos del Crecimiento/fisiopatología , Humanos , Lactante , Recién Nacido , Masculino , Neurofibromatosis 1/genética , Índice de Severidad de la Enfermedad , Factores Sexuales , Estadística como AsuntoRESUMEN
The effect of hyperglycemia and insulin deficiency on the plasma level of lysosomal glycohydrolases, namely N-acetyl-beta-D-glucosaminidase, beta-D-glucuronidase, alpha-D-galactosidase, and alpha-D-glucosidase, was investigated. Two patient groups were assessed: (1) 28 children with type 1 diabetes at onset (fasting blood glucose, 444+/-154 mg/100 mL; hemoglobin A1c, 11.9%+/-2.4%; symptom duration, 15.9+/-8 days; and absence of complications), (2) 14 adult subjects undergoing an intravenous glucose tolerance test (IVGTT), consisting of 8 non-obese subjects (body mass index, 26+/-0.04 kg/m2; fasting blood glucose, 82+/-13 mg/100 mL; blood insulin, 6+/-0.04 mU/L) and 6 obese subjects (fasting blood glucose, 97+/-3.5 mg/100 mL; blood insulin, 27+/-6 mU/L, with normal oral glucose tolerance test). Enzyme activity was determined with the fluorimetric method. The mean level of all evaluated enzymes was significantly increased in patients with type 1 diabetes at diagnosis compared with normal controls. Increased enzyme levels were also detected in the group of adults undergoing an IVGTT in whom hyperglycemia was accompanied by insulin resistance (ie, obese subjects). Glycohydrolase abnormalities appear to be related to insulin deficiency rather than hyperglycemia. Lysosomal apparatus abnormalities seem to be an inherent feature of diabetes that is present at disease onset. The possible role of insulin in the regulation of plasma glycohydrolase levels is discussed.
Asunto(s)
Diabetes Mellitus Tipo 1/enzimología , Prueba de Tolerancia a la Glucosa , Glicósido Hidrolasas/sangre , Adolescente , Glucemia/análisis , Niño , Preescolar , Humanos , Insulina/sangre , Lisosomas/enzimologíaRESUMEN
The purpose of this study was to evaluate the cardiorespiratory and metabolic response to exercise in 33 children, aged 9 to 15 years, affected by type I diabetes mellitus, in comparison with 47 age-, sex-, weight-, and height-matched healthy children. All diabetic children were on a mixed split-dose insulin regimen, consisting of both regular and long-acting insulin in the morning and evening. The last insulin injection was administered on average 6 hours before the test. The mean duration of diabetes mellitus was 5.0 +/- 3.1 years. The metabolic control was evaluated on the basis of HbA1 levels (mean, 8.9 +/- 1.8%). Pulmonary function tests and progressive exercise tests on the treadmill were performed. Gas exchange, ventilation, and heart rate (HR) were monitored during the tests. The O2 pulse (VO2/HR) was calculated. There was no difference in the baseline oxygen uptake (VO2) between the diabetic children and the control group. VO2 peak was significantly lower (P less than 0.01) in the diabetic adolescents (41.2 +/- 5.9 mL/min/kg) compared to control subjects (46.3 +/- 9.6 mL/min/kg) and it was achieved at an earlier (P less than 0.01) time of run (7.5 +/- 1.8 vs. 9.1 +/- 2.8 min). Anaerobic threshold and minute ventilation were similar in the two groups. The O2 pulse throughout the test was significantly lower (ANOVA, P less than 0.001) in the diabetic group compared to the controls. No differences were found in resting and post-exercise spirometric values. In conclusion, our study shows that well-controlled diabetic adolescents have a reduced working capacity.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Diabetes Mellitus Tipo 1/fisiopatología , Ejercicio Físico/fisiología , Consumo de Oxígeno/fisiología , Intercambio Gaseoso Pulmonar/fisiología , Adolescente , Glucemia/análisis , Estudios de Casos y Controles , Niño , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/metabolismo , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Masculino , Mecánica Respiratoria/fisiologíaRESUMEN
Urokinase is an enzyme with a fibrinolytic effect that facilitates pleural empyema drainage through a chest tube. The aim of this study was to assess the risk of pneumothorax, the need for pleural debridement surgery, the persistence of fever, and the number of days in hospital in a group of children with parapneumonic pleural empyema treated with urokinase. This was an uncontrolled retrospective study on children suffering from parapneumonic empyema. Data collected on 17 children treated with urokinase were compared with 11 children treated prior to the advent of urokinase (the "historic" group). The urokinase was instilled in the pleural cavity over a period ranging from 2-8 days, amounting to a median total dose per kilogram of body weight of 18,556 IU (range, 7,105-40,299). Surgical treatment of the empyema involved drainage tube placement and/or debridement of the pleural cavity. Three children developed pneumothorax during their hospital stay, and one more case occurred 6 months after the child had recovered from his empyema; there were 3 cases of pneumothorax during the acute phase in the "historic" group (P = 0.54). Five children in the urokinase group were debrided and 12 were only drained, as opposed to 9 and 2, respectively, in the "historic" group (P = 0.02). The overall hospital stay was 17 days for the urokinase group, and 24 for the "historic" group (P = 0.02). No bleeding or other major complications were reported in the group treated with urokinase. In conclusion, urokinase treatment does not carry a risk of pneumothorax, while it does reduce hospital stay and the need for pleural debridement.
Asunto(s)
Empiema Pleural/tratamiento farmacológico , Activadores Plasminogénicos/uso terapéutico , Activador de Plasminógeno de Tipo Uroquinasa/uso terapéutico , Niño , Preescolar , Desbridamiento , Empiema Pleural/complicaciones , Empiema Pleural/economía , Empiema Pleural/cirugía , Femenino , Humanos , Tiempo de Internación , Masculino , Activadores Plasminogénicos/economía , Neumotórax/etiología , Estudios Retrospectivos , Activador de Plasminógeno de Tipo Uroquinasa/economíaRESUMEN
A cross-sectional study was conducted on among 28,856 children aged from birth to 14 years to determine the prevalence of asthma and assess its treatment in a sample of asthmatic children. Children diagnosed with asthma were identified by a sensitive algorithm applied to the information stored in the computerized medical records between 1997 and 1998. Pediatricians then reviewed and validated the diagnosis. Specific information was obtained, after age stratification under 5 yrs and over 6 ys, from the medical records and by interview regarding their personal details and treatment of asthmatic patients. In all, 1,263 cases of asthma were identified (64% males) with a prevalence of 6.3% among males and 4% among females in under 5 year-olds, and 3.9% for males and 2.1% for females in over 6 year-olds. The prevalence of asthma diagnosed directly by the pediatrician was consequently higher among under 5 year-olds, in both genders, than among the older children. Contrary to the international guidelines, pediatricians prescribed more oral corticosteroids and nebulized short-acting beta-2 agonists for children under 5 ys olds than for over 6 year-olds (13.3% Vs 4.8% and 25% Vs 10.9%, respectively, p < 0.001). For the > or = 6 year-olds, the most commonly prescribed treatments were oral antihistamines (13.9% Vs 12.6%), inhaled corticosteroids via metered-dose inhaler (30.8% Vs 28.7%) and sodium cromoglycate (12.1% Vs 4.8%, p < 0.001).
Asunto(s)
Antiasmáticos/uso terapéutico , Asma/epidemiología , Adolescente , Corticoesteroides/uso terapéutico , Antagonistas Adrenérgicos beta/uso terapéutico , Asma/tratamiento farmacológico , Niño , Preescolar , Antagonistas Colinérgicos/uso terapéutico , Cromolin Sódico/uso terapéutico , Estudios Transversales , Bases de Datos Factuales , Vías de Administración de Medicamentos , Prescripciones de Medicamentos/estadística & datos numéricos , Utilización de Medicamentos/estadística & datos numéricos , Femenino , Antagonistas de los Receptores Histamínicos H1/uso terapéutico , Humanos , Lactante , Recién Nacido , Italia/epidemiología , Masculino , Sistemas de Registros Médicos Computarizados , Pautas de la Práctica en Medicina/estadística & datos numéricos , Prevalencia , Estudios RetrospectivosRESUMEN
The experience of therapy with Dexamethasone I.V. and Aminophylline I.V. in 13 hospitalized asthmatic children with severe asthma is reported. In all patients the respiratory emergency finished in 24 hours. The results obtained are discussed.
Asunto(s)
Aminofilina/uso terapéutico , Asma/tratamiento farmacológico , Dexametasona/uso terapéutico , Aminofilina/administración & dosificación , Niño , Preescolar , Dexametasona/administración & dosificación , Femenino , Humanos , Inyecciones Intravenosas , MasculinoRESUMEN
A case of Chédiak-Higashi syndrome in a 12-years old girl is presented. The Authors refer recent advances in the pathogenetic mechanism and in the treatment of this syndrome. Furthermore, they report a prolonged remission of infections during ascorbic acid therapy.
Asunto(s)
Ácido Ascórbico/uso terapéutico , Síndrome de Chediak-Higashi/tratamiento farmacológico , Infecciones del Sistema Respiratorio/tratamiento farmacológico , Síndrome de Chediak-Higashi/diagnóstico , Quimiotaxis de Leucocito , Niño , Femenino , Humanos , Neutrófilos , FagocitosisRESUMEN
The present study was undertaken to determine the clinical usefulness of fructosamine estimations in monitoring the short term changing in metabolic control in 5 newly diagnosed type 1 diabetic children (3 boys, 2 girls, aged 3-13 years). Mean glycaemic values, HbAlc (normal range: 4.77 +/- 0.67%), fructosamine (normal range: 2.65 +/- 0.65 mmol/l) were determined at the admission and after 1, 2, 3, 4 weeks. Normoglycaemia was achieved within 1 week (mean values: 232 +/- 107 mg% at admission; 98 +/- 39 mg% after 1 week of insulin therapy), HbAlc slightly decreased from 12 +/- 0.71 at admission to 9.90 +/- 1.81 after 4 weeks, but not reached normal values. Fructosamine decreased from 5.49 mmol/l to near normal values (3.02 +/- 0.67) after 4 weeks. The validity of the method was confirmed by the comparison of HbAlc and fructosamine in 22 stable long-standing diabetic children (r = 0.77, p less than 0.01). Compared with HbAlc, fructosamine appeared more useful in monitoring short term (3 weeks) changes in metabolic control. Additional advantages were lower cost and technical simplicity of measurement.
Asunto(s)
Diabetes Mellitus Tipo 1/sangre , Hexosaminas/sangre , Adolescente , Glucemia/análisis , Calorimetría , Niño , Preescolar , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Fructosamina , Hemoglobina Glucada/análisis , Humanos , Insulina/uso terapéutico , Masculino , Monitoreo Fisiológico , Factores de TiempoRESUMEN
We describe the case of an 11 years old girl admitted to investigate an abdominal mass. The patient presented with abdominal pain, halitosis, exhaustion, started about 1 year prior to admission. An upper gastrointestinal tract with barium and a gastric endoscopy showed a massive trichobezoar which was then surgically removed. A detailed medical history revealed a prolonged habit of trichophagia.
Asunto(s)
Bezoares/cirugía , Gastropatías/cirugía , Niño , Femenino , HumanosRESUMEN
The results obtained in 151 children who underwent C.T. scan at the Pediatric Department of the University of Padova are reported. The high incidence of negative or aspecific results in the cases of static encephalopathy, in primary generalized epilepsy and in acute diffuse cerebral infectious process is emphasized. C.T. confirmed its high diagnostic value in tuberous sclerosis and cerebral abscess. While non providing the precise diagnosis it may be helpful in some demyelinating diseases. In secondary generalized epilepsy and in partial epilepsy C.T. scan may suggest the prognosis and a possible surgical approach. On the basis of these results and of other published reports a greater selectivity in the use of C.T. is strongly recommended.
Asunto(s)
Encefalopatías/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Atrofia , Absceso Encefálico/diagnóstico por imagen , Encefalopatías/complicaciones , Neoplasias Encefálicas/diagnóstico por imagen , Calcinosis/diagnóstico por imagen , Niño , Preescolar , Quistes/diagnóstico por imagen , Encefalitis/etiología , Epilepsia/etiología , Humanos , Hidrocefalia/diagnóstico por imagen , Lactante , Recién Nacido , Parálisis/etiología , Espasmos Infantiles/etiología , Esclerosis Tuberosa/diagnóstico por imagenAsunto(s)
Trasplante de Médula Ósea , Mucopolisacaridosis I/cirugía , Adolescente , Adulto , Preescolar , Femenino , Estudios de Seguimiento , HumanosRESUMEN
Shwachman-Diamond syndrome is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. The majority of Shwachman-Diamond syndrome cases result from mutations in the Shwachman-Bodian-Diamond Syndrome gene. To date, type 1 diabetes mellitus has only been reported in 4 independent cases presenting with Shwachman-Diamond syndrome, 3 of them with molecular confirmation of the diagnosis. We describe 2 unrelated patients with clinical and molecular features typical of Shwachman-Diamond syndrome and type 1 diabetes mellitus. In addition, we report the occurrence rate of type 1 diabetes mellitus in the Italian registry for Shwachman-Diamond syndrome, which is low (3.23%) but increased at least 30-fold over the type 1 diabetes mellitus occurrence rate in the general population. No evidence of a direct correlation between Shwachman-Diamond syndrome and type 1 diabetes mellitus have been reported, therefore the presence of both diseases in the same patient might be a chance association, however we suggest that the defects in immune regulation of Shwachman-Diamond syndrome might play a role in the development of type 1 diabetes mellitus.
Asunto(s)
Enfermedades de la Médula Ósea/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Insuficiencia Pancreática Exocrina/complicaciones , Lipomatosis/complicaciones , Enfermedades de la Médula Ósea/genética , Enfermedades de la Médula Ósea/inmunología , Relación CD4-CD8 , Diabetes Mellitus Tipo 1/etiología , Insuficiencia Pancreática Exocrina/genética , Insuficiencia Pancreática Exocrina/inmunología , Femenino , Heterocigoto , Humanos , Sistema Inmunológico/fisiopatología , Lactante , Italia/epidemiología , Lipomatosis/genética , Lipomatosis/inmunología , Masculino , Mutación , Prevalencia , Proteínas/genética , Sistema de Registros , Síndrome de Shwachman-DiamondRESUMEN
UNLABELLED: In patients with community-acquired pneumonia (CAP), bacterial-cell-wall-derived fragments may induce the coagulation cascade. To contribute to the knowledge of underlying mechanisms, we have studied the fibrinolytic activity in children with CAP and parapneumonic effusions. PATIENTS AND METHODS: Twenty previously healthy children admitted to our Department with CAP were studied; with (n = 11) or without (n = 9) pleural effusion (PPE). We also investigated 10 children with empyema. In all children we analyzed coagulation and fibrinolytic parameters and compared the results to nine controls. RESULTS: Prothrombin time (PT) and activated partial thromboplastin time (aPTT) were not significantly modified in the three groups as compared to controls (P = 0.975, P = 0.535, respectively). The fibrinogen levels were significantly increased in respect to the control group (P < 0.0001). The median values of D-dimer showed an increasing trend that was statistically significant: children with pneumonia 244 microg/L, with pneumonia and PPE 751 microg/L and with empyema 2003 microg/L, in respect to values (48 microg/L) of our control group (P < 0.0001). CONCLUSION: The results suggest that plasma level of D-dimer can give an additional contribution for the evaluation of the severity of CAP and its complications in children.
Asunto(s)
Empiema/sangre , Productos de Degradación de Fibrina-Fibrinógeno/análisis , Fibrinógeno/análisis , Derrame Pleural/sangre , Neumonía/sangre , Adolescente , Biomarcadores/sangre , Proteína C-Reactiva/análisis , Niño , Preescolar , Infecciones Comunitarias Adquiridas , Humanos , Lactante , Tiempo de Tromboplastina Parcial/estadística & datos numéricos , Tiempo de Protrombina/estadística & datos numéricos , Índice de Severidad de la EnfermedadRESUMEN
Studying 239 Type 1 (insulin-dependent) diabetic patients and 144 of their first-degree relatives, we found a significant prevalence of autoimmune manifestations in both groups, compared with sex- and age-matched control subjects (p less than 0.001). In particular, in diabetic patients we found a high frequency of autoimmune thyroid disease and idiopathic Addison's disease and also a significant prevalence of thyroid (p less than 0.001), parietal cell (p less than 0.05) and adrenal antibodies (p less than 0.05). In the relatives a high frequency of thyroid disease, thyroid, parietal cell and adrenal antibodies and a significant prevalence of islet cell antibodies (p less than 0.05) were detected. In both groups functional glandular tests and gastric biopsies performed on the basis of autoantibody positivity revealed 13 examples of subclinical hypothyroidism, two cases of reduced adrenocortical reserve and five of atrophic gastritis. Autoantibody screening in diabetic patients and their relatives permitted the early diagnosis of the underlying endocrine disorders.
Asunto(s)
Autoanticuerpos/análisis , Enfermedades Autoinmunes/genética , Diabetes Mellitus Tipo 1/genética , Especificidad de Órganos , Adolescente , Glándulas Suprarrenales/inmunología , Adulto , Anciano , Enfermedades Autoinmunes/inmunología , Niño , Preescolar , Diabetes Mellitus Tipo 1/inmunología , Femenino , Técnica del Anticuerpo Fluorescente , Estudios de Seguimiento , Humanos , Islotes Pancreáticos/inmunología , Masculino , Microsomas/inmunología , Persona de Mediana Edad , Estómago/inmunología , Glándula Tiroides/inmunologíaRESUMEN
Pathogenetic mechanisms other than the quality of metabolic control may play a role in the development of diabetic nephropathy. Some cross-sectional studies have shown that elevated erythrocyte sodium-lithium countertransport (Na+/Li+ CT) activity may be linked to incipient or overt nephropathy in insulin-dependent diabetic (IDDM) patients. The aim of the present work was to ascertain if high erythrocyte Na+/Li+ CT activity anticipates the development of microalbuminuria in IDDM patients. Evaluation of this cation transport system was carried out in 159 normotensive, normoalbuminuric IDDM patients, who were divided into two groups: those with values above (Group A) and those with values below (Group B) the median level in the overall population (300 mumol/erythrocytes x h). A total of 79 patients in Group A and 80 in Group B underwent periodic examinations over a similar time period (5.2 years, range 3.3-7.4 years and 5.4 years, range 3.4-7.5 years, respectively). Median sodium-lithium countertransport activity was stable when evaluated after 2 and 4 years of follow-up. Only seven patients were excluded from the protocol because changes in their sodium-lithium countertransport activity placed them on the other side of the median value with respect to their baseline measurement. Thus, 152 patients completed the study (76 in Group A and 76 in Group B). Of the 76 patients in Group A, 17 developed persistent microalbuminuria (22.3%). The number of patients in Group B showing persistent microalbuminuria was significantly lower (4 of 76; 5.2%; p < 0.01). The sensitivity of erythrocyte Na+/Li+ CT in predicting the development of microalbuminuria was 85% and its specificity was 55%. Seven patients of Group A and five of Group B developed arterial hypertension. Subjects in Group A had significantly higher mean HbA1c values of twice yearly measurements than those in Group B (9.6 +/- 1.7 vs 8.3 +/- 1.7%, p < 0.002, mean +/- SD) despite similar daily insulin requirements. Systolic and diastolic blood pressure levels were also evaluated every 6 months and were significantly higher in the Group A than in the Group B patients, although on average within the normal range. The odds ratio for developing persistent microalbuminuria in IDDM with elevated baseline erythrocyte Na+/Li+ CT activity after adjustment for gender and baseline albumin excretion rate, and mean 6 monthly plasma creatinine, HbA1c and systolic and diastolic blood pressure levels was 4.2 (95% confidence intervals 2.0-11.1). It was also found that the percentage of offspring having both parents with Na+/Li+ CT activity above the median value was significantly higher in Group A than in Group B (Group A vs Group B: 35 vs 19%; p < 0.01). On the contrary the percentage of offspring whose erythrocyte Na+/Li+ CT was lower in both parents was lower in Group A than in Group B: 10 vs 38%, p < 0.01). Parents of Group A offspring had arterial hypertension more frequently than those of Group B. These results indicate that erythrocyte Na+/Li+ CT activity is a useful diagnostic tool in identifying normotensive, normoalbuminuric patients who may be predisposed to develop persistent microalbuminuria. This disorder in the cation transport system is associated with poor metabolic control, higher blood pressure, and male sex; it also appears to be, at least partly, genetically transmitted.