ABSTRACT
El diagnóstico del síndrome de Alport supone un reto en la edadpediátrica, debido a la ausencia de fenotipos clínicos esperados de la enfermedad, su clásica caracterización de entidad rara y la práctica muy restringida de biopsias renales con análisis rutinario de la muestra por microscopía electrónica durante la infancia. Se presentan las características clínicas y genéticas de 6 pacientes pediátricos (4 mujeres) diagnosticados de síndromede Alport en dos centros hospitalarios entre 2018 y 2021. Todos los pacientes presentaron un debut clínico claramente diferente y ninguno presentó complicaciones auditivas nioftalmológicas. La mitad carecía de antecedentes familiares de enfermedad renal crónica. Ninguna biopsia renal realizada confirmó el diagnóstico. Todos los pacientes fueron confirmadosgenéticamente y fueron el caso índice del estudio familiar. Esta serie ilustra la presencia de fenotipos clínicos inesperados en el síndrome de Alport y refleja la necesidad de incorporar el estudio genético para su diagnóstico.
The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very restricted practice of renal biopsies with routine analysis of the sample by electron microscopy during infancy. The clinical and genetic characteristics of 6 pediatric patients (4 women) diagnosed with Alport syndrome in two hospital centers between 2018 and 2021 are reported. All patients presented a clearly different clinical debut and none presented auditory or ophthalmological complications. Half had no family history of chronic kidney disease. No kidney biopsy performed confirmed the diagnosis. All patients were genetically confirmed and were the index case in the family study. This series illustrates the presence of unexpected clinical phenotypes in Alport syndrome and reflects the need for the incorporation of the genetic study for its diagnosis.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Nephritis, Hereditary/complications , Nephritis, Hereditary/diagnosis , Nephritis, Hereditary/genetics , Phenotype , Genetic Testing , Medical History TakingABSTRACT
The diagnosis of Alport syndrome is a challenge in the pediatric age, due to the absence of expected clinical phenotypes of the disease, its classic characterization of a rare disease and the very restricted practice of renal biopsies with routine analysis of the sample by electron microscopy during infancy. The clinical and genetic characteristics of 6 pediatric patients (4 women) diagnosed with Alport syndrome in two hospital centers between 2018 and 2021 are reported. All patients presented a clearly different clinical debut and none presented auditory or ophthalmological complications. Half had no family history of chronic kidney disease. No kidney biopsy performed confirmed the diagnosis. All patients were genetically confirmed and were the index case in the family study. This series illustrates the presence of unexpected clinical phenotypes in Alport syndrome and reflects the need for the incorporation of the genetic study for its diagnosis.
El diagnóstico del síndrome de Alport supone un reto en la edad pediátrica, debido a la ausencia de fenotipos clínicos esperados de la enfermedad, su clásica caracterización de entidad rara y la práctica muy restringida de biopsias renales con análisis rutinario de la muestra por microscopía electrónica durante la infancia. Se presentan las características clínicas y genéticas de 6 pacientes pediátricos (4 mujeres) diagnosticados de síndrome de Alport en dos centros hospitalarios entre 2018 y 2021. Todos los pacientes presentaron un debut clínico claramente diferente y ninguno presentó complicaciones auditivas ni oftalmológicas. La mitad carecía de antecedentes familiares de enfermedad renal crónica. Ninguna biopsia renal realizada confirmó el diagnóstico. Todos los pacientes fueron confirmados genéticamente y fueron el caso índice del estudio familiar. Esta serie ilustra la presencia de fenotipos clínicos inesperados en el síndrome de Alport y refleja la necesidad de incorporar el estudio genético para su diagnóstico.
Subject(s)
Nephritis, Hereditary , Female , Humans , Nephritis, Hereditary/diagnosis , Nephritis, Hereditary/genetics , Nephritis, Hereditary/complications , Genetic Testing , Phenotype , Medical History TakingABSTRACT
La prevalencia de la hipertensión arterial ha aumentado considerablemente en la edad pediátrica como consecuencia principal de su detección en niños mayores y adolescentes, en quienes predomina la causa esencial (primaria). En otras etapas de la edad pediátrica la HTA es menos frecuente, en especial en lactantes. En este grupo la hipertensión arterial obedece casi siempre a causas secundarias, en ocasiones potencialmente graves, por lo que resulta imprescindible detectarla, llevar a cabo un proceso diagnóstico etiológico adecuado y proporcionar al paciente un adecuado tratamiento, que suele requerir de un profesional especializado. A las dificultades técnicas propias de la medición de la presión arterial en los lactantes se añade la ausencia de recomendaciones específicas relacionadas con su identificación sistemática y de valores de normalidad bien establecidos en este rango de edad, por lo que su manejo constituye un reto diagnóstico y terapéutico para el profesional. A través de la exposición de 3 casos de hipertensión detectada en la etapa de lactante, se pretende sensibilizar al pediatra sobre esta enfermedad, así como proporcionar información sobre su orientación diagnóstica y terapéutica, incidiendo asimismo en las medidas farmacológicas
Arterial Hypertension prevalence (HTN) has significantly increased in paediatric patients, mainly in older children and teenagers. In these subjects the most common type is essential or primary HTN. However, in infants HTN prevalence is significantly lower and is almost always due to secondary causes, which can be potentially severe. Hence the importance of its detection, in order to establish an etiological diagnosis and provide an appropriate treatment, which usually requires a specialist physician. In addition to the technical difficulties of blood pressure measurement in infants, the lack of recommendations to perform a systematic screening in this age range and the absence of well-established normal values turns infancy-onset HTN into a diagnostic and therapeutic challenge for the physician. By means of the exposition of three infancy-onset HTN cases, the aim is to increase the paediatrician's awareness of this pathology and also to provide information about its diagnostic and therapeutic approach, dealing also with pharmacological measures of treatment
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Hypertension/diagnosis , Hypertension/etiology , Hypertension/drug therapy , Antihypertensive Agents/therapeutic use , Risk Factors , Blood Pressure/drug effectsABSTRACT
Arterial Hypertension prevalence (HTN) has significantly increased in paediatric patients, mainly in older children and teenagers. In these subjects the most common type is essential or primary HTN. However, in infants HTN prevalence is significantly lower and is almost always due to secondary causes, which can be potentially severe. Hence the importance of its detection, in order to establish an etiological diagnosis and provide an appropriate treatment, which usually requires a specialist physician. In addition to the technical difficulties of blood pressure measurement in infants, the lack of recommendations to perform a systematic screening in this age range and the absence of well-established normal values turns infancy-onset HTN into a diagnostic and therapeutic challenge for the physician. By means of the exposition of three infancy-onset HTN cases, the aim is to increase the paediatrician's awareness of this pathology and also to provide information about its diagnostic and therapeutic approach, dealing also with pharmacological measures of treatment.
