RESUMO
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Assuntos
Humanos , Criança , Adolescente , Hipertensão , Diabetes Mellitus Tipo 1 , Pressão Arterial , Estudos Transversais , Monitorização AmbulatorialRESUMO
ANTECEDENTES Y OBJETIVO: Las tubulopatías primarias son raras y se presentan habitualmente en la edad pediátrica. Avances recientes en diagnóstico genético y tratamiento han cambiado su historia natural. Este estudio presenta el espectro clínico de una serie de tubulopatías primarias diagnosticadas en una Unidad de Nefrología Pediátrica y ofrece datos de seguimiento a largo plazo sobre crecimiento, filtrado glomerular estimado y complicaciones intercurrentes. PACIENTES Y MÉTODOS: Estudio observacional en 53 pacientes con tubulopatías primarias y defecto genético identificado: síndrome de Gitelman (36%), acidosis tubular renal distal (15%), cistinuria (11%), raquitismo hipofosfatémico ligado al X (7%), síndrome de Dent-Lowe (7%), cistinosis (6%), y uno o 2 casos de otras tubulopatías. Se recogieron datos demográficos, analíticos y clínicos al diagnóstico, durante la evolución y en el momento del estudio. RESULTADOS: La edad (mediana y rango intercuartílico) al diagnóstico fue de 5,08 años (1,33-8,50). Las manifestaciones de presentación más frecuentes fueron descompensaciones metabólicas asociadas a procesos intercurrentes (40%) y talla baja (38%). La talla (media ± DE) fue de -1,39 ± 1,49 al diagnóstico y 1,07 ± 1,54 tras un seguimiento de 18,92 (6,25-24,33) años. Dieciséis (32%) desarrollaron filtrado glomerular estimado < 90 mL/min/1,73 m2. Tres pacientes requirieron reemplazo renal sustitutivo. Once enfermos tuvieron descompensaciones metabólicas que requirieron hospitalización, 9 cólicos nefríticos y/o cálculos renales y 10 problemas mentales. Seis de 8 pacientes con acidosis tubular renal desarrollaron sordera neurosensorial. CONCLUSIONES: Las tubulopatías primarias son un grupo heterogéneo de enfermedades que ocasionan afectación del crecimiento, reversible en gran medida con tratamiento, riesgo de reducción de filtrado glomerular estimado e importantes complicaciones extrarrenales derivadas o asociadas
BACKGROUND AND OBJECTIVE: Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration and intercurrent complications. PATIENTS AND METHODS: Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study. RESULTS: The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was - 1.39 ± 1.49 at diagnosis and 1.07 ± 1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration < 90 ml / min / 1.73 m2. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and / or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness. CONCLUSIONS: Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of estimated glomerular filtration reduction and significant extrarenal complications derived or associated
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Erros Inatos do Transporte Tubular Renal/patologia , Progressão da Doença , Erros Inatos do Transporte Tubular Renal/fisiopatologia , Estudos Longitudinais , Seguimentos , Cistinose/patologia , Cistinose/fisiopatologia , Taxa de Filtração Glomerular/fisiologiaRESUMO
BACKGROUND AND OBJECTIVE: Primary tubulopathies are rare and usually present at pediatric age. Recent advances in genetic diagnosis and treatment have changed its natural history. This study provides the clinical spectrum of a series of primary tubulopathies diagnosed in a Pediatric Nephrology Unit and to offer long-term follow-up data regarding growth, estimated glomerular filtration and intercurrent complications. PATIENTS AND METHODS: Observational study in 53 patients with primary tubulopathies and identified genetic defect: Gitelman syndrome (36%), distal renal tubular acidosis (15%), cystinuria (11%), X-linked hypophosphatemic rickets (7%), Dent-syndrome Lowe (7%), cystinosis (6%), and 1-2 cases of other tubulopathies. Demographic, analytical and clinical data were collected at diagnosis, during evolution and at the time of the study. RESULTS: The age (median and interquartile range) at diagnosis was 5.08 years (1.33-8.50). The most frequent presentation manifestations were metabolic decompensations associated with intercurrent processes (40%) and short stature (38%). Height (mean±SD) was -1.39±1.49 at diagnosis and 1.07±1.54 after a follow-up of 18.92 (6.25-24.33) years. Sixteen (32%) developed an estimated glomerular filtration<90ml / min / 1.73m2. Three patients required replacement renal replacement. Eleven patients had metabolic decompensations that required hospitalization, 9 renal colic and / or kidney stones and 10 mental problems. Six of 8 patients with distal renal tubular acidosis developed sensorineural deafness. CONCLUSIONS: Primary tubulopathies are a heterogeneous group of diseases that cause growth impairment, largely reversible with treatment, risk of estimated glomerular filtration reduction and significant extrarenal complications derived or associated.