Espectro clínico e laboratorial da nefrocalcinose
Data
2024-05-20
Autores
Ayoub, Elenice Andrade Milhomem 
Orientadores
Heilberg, Ita Pfeferman
Tipo
Dissertação de mestrado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Introdução: A nefrocalcinose é caracterizada por apresentações clínicas heterogêneas associadas a manifestações renais e sistêmicas com amplo espectro de alterações bioquímicas e/ou de origem genética que dependem da etiologia e do momento do diagnóstico. Existem poucos estudos em nosso meio sobre a etiopatogenia e repercussão clínica dessa condição patológica, muitas vezes assintomática. O objetivo do presente estudo foi identificar a etiologia da NC e comparar as características demográficas, clínicas e laboratoriais em diferentes idades ao diagnóstico. Métodos: Trata-se de um estudo retrospectivo observacional com base nos prontuários de pacientes em acompanhamento ambulatorial no Serviço de Nefrologia, com relato de NC diagnosticada através de Tomografia Computadorizada de abdome sem contraste EV e/ou Ultrassonografia renal, no período de 1988 a 2023. As características epidemiológicas, clínicas, bioquímica sérica e urinária e testes genéticos dos pacientes consideradas para a presente análise, foram obtidas das primeiras consultas até o estabelecimento do diagnóstico etiológico. Resultados: Foram incluídos 96 pacientes, divididos em 2 grupos de adultos ou crianças, de acordo com a faixa etária na época do exame radiológico, n=66 (49F/17M, idade > 18 anos de idade) e n=30 (15F/15M, <18 anos de idade). A Acidose Tubular Renal distal foi a etiologia mais frequente em ambos os grupos, proporcionalmente mais presente em crianças (43,3% versus 25,5 %, p= 0,08), mas sem diferença estatística entre eles, e o Hiperparatireoidismo Primário foi a segunda causa mais frequente entre os adultos e ausente nas crianças (p=0,01). A Hipercalciúria foi o fator de risco metabólico mais comum em ambos os grupos etários, em torno de 60%. Os casos de etiologia indeterminada contabilizaram apenas 5% dos pacientes. As crianças apresentaram um quadro clínico caracterizado mais frequentemente por distúrbios eletrolíticos (47,0%), déficit de crescimento (50,0%) e surdez associada (23,0%) enquanto os adultos apresentaram maior sintomatologia de dor lombar (42,0%) devido à associação com Nefrolitíase (diferenças estatisticamente significantes entre os grupos). Houve uma tendência de maior frequência de procedimentos urológicos em adultos do que em crianças (45,0% vs 2,6%), porém sem diferença estatística (p=0,08). A porcentagem de casos assintomáticos foi similar entre crianças e adultos, 16,7% e 21,2 %, respectivamente. A mediana de taxa de filtração glomerular estimada foi menor em adultos do que em crianças, 85 [59-113] versus 106 [91,3-123] mL/min/1,73m2 (p=0,01). O diagnóstico molecular pôde ser estabelecido em 21/29 (72,3%) casos geneticamente testados, a maioria em crianças. Conclusão: O presente estudo evidenciou a etiologia de NC em 95,0% dos casos, com uma apresentação clínica distinta nas duas faixas etárias, que se relacionou à maior presença de tubulopatias em crianças e à maior associação com nefrolitíase em adultos. A realização de testes genéticos foi essencial na investigação de causas hereditárias, tendo confirmado o diagnóstico em 62,0% dos casos e modificado o diagnóstico em 10,3%. Esses dados sugerem que uma investigação clínica com um protocolo de exames laboratoriais direcionados à pesquisa das principais etiologias podem ser suficientes para elucidar e direcionar o tratamento médico de uma grande parte dos casos de NC, mas que o estudo genético aprimora a acurácia diagnóstica.
Introduction: Nephrocalcinosis manifests with diverse clinical presentations encompassing renal and systemic manifestations, accompanied by a spectrum of biochemical and/or genetic alterations contingent upon the underlying etiology and the timing of diagnosis. Despite its frequent asymptomatic nature, NC poses substantial clinical implications. Regrettably, there remains a scarcity of studies within our national context addressing the etiopathogenesis and clinical ramifications of this pathological entity. Therefore, the primary aim of the present investigation was to discern the etiological underpinnings of NC while undertaking a comparative analysis of demographic, clinical, and laboratory profiles across various age groups at the time of diagnosis. Methods: The present investigation constitutes a retrospective observational study founded upon the scrutiny of medical documentation pertaining to patients engaged in outpatient care within the Nephrology Service. This study specifically targets individuals with documented instances of NC as diagnosed through unenhanced abdominal computed tomography scans and/or renal ultrasound examinations spanning the period from 1988 to 2023. Epidemiological data, clinical profiles, serum and urinary biochemical parameters, as well as genetic testing results of patients under consideration for this analysis, were meticulously extracted from initial consultations through to the definitive establishment of their etiological diagnoses. Results: Ninety-six (96) patients were included within this study, categorized into two distinct groups according to the age of radiological evidence of NC, namely adults (n=66, 49F/17M > 18 years old) and children (n=30,15F/15M, <18 years old). Notably, Distal Renal Tubular Acidosis emerged as the predominant etiological factor in both groups, more frequent in children (43.3% versus 25.5 %) but without statistical difference, p=0.08) whereas Primary Hyperparathyroidism constituted the secondary most prevalent etiology among adults, and totally absent among the pediatric cohort (p=0.01). Hypercalciuria emerged as the principal metabolic risk factor in both groups, with an approximate prevalence of 60%. Only 5% of cases remained diagnosed. Distinct clinical profiles were observed between pediatric and adult patients. Children were more prone to present with electrolyte disturbances (47.0%), failure to thrive (50.0%), and concomitant sensorineural hearing loss (23.0%), whereas adults commonly presented with symptoms of low back pain (42.0%), predominantly attributed to the presence of nephrolithiasis, underscoring statistically significant differences between the two groups. A tendency towards a higher incidence of urological interventions among adults relative to their pediatric counterparts was observed (45.0% vs 2.6%), albeit lacking statistical significance (p=0.08). Furthermore, the prevalence of asymptomatic cases mirrored a comparable distribution across both age cohorts, comprising 16.7% among children and 21.2% among adults. Moreover, the median estimated glomerular filtration rate was significantly lower in adults than children, 85 [59-113] versus 106 [91.3-123] mL/min/1.73m2, respectively (p=0.01). Molecular analysis yielded successful diagnoses for 21 out of 29 the genetically tested cases (72.3%), predominantly in the pediatric group. Conclusion: The present study showed the elucidation of the etiological cases of NC in 95.0% of cases. The clinical presentations seemed to be quite different across the pediatric and adult groups, encompassing more tubulopathies among children and a pronounced association with nephrolithiasis among adults. The pivotal role of genetic testing in unraveling hereditary causes was underscored, confirming the diagnosis in 62.0% of cases and modifying it in 10.3% of them. These findings suggest that the implementation of a comprehensive clinical and laboratorial investigation may suffice to clarify the etiological diagnosis of NC and guide therapeutic interventions in a substantial proportion cases, but that genetic test ameliorate the accuracy.
Introduction: Nephrocalcinosis manifests with diverse clinical presentations encompassing renal and systemic manifestations, accompanied by a spectrum of biochemical and/or genetic alterations contingent upon the underlying etiology and the timing of diagnosis. Despite its frequent asymptomatic nature, NC poses substantial clinical implications. Regrettably, there remains a scarcity of studies within our national context addressing the etiopathogenesis and clinical ramifications of this pathological entity. Therefore, the primary aim of the present investigation was to discern the etiological underpinnings of NC while undertaking a comparative analysis of demographic, clinical, and laboratory profiles across various age groups at the time of diagnosis. Methods: The present investigation constitutes a retrospective observational study founded upon the scrutiny of medical documentation pertaining to patients engaged in outpatient care within the Nephrology Service. This study specifically targets individuals with documented instances of NC as diagnosed through unenhanced abdominal computed tomography scans and/or renal ultrasound examinations spanning the period from 1988 to 2023. Epidemiological data, clinical profiles, serum and urinary biochemical parameters, as well as genetic testing results of patients under consideration for this analysis, were meticulously extracted from initial consultations through to the definitive establishment of their etiological diagnoses. Results: Ninety-six (96) patients were included within this study, categorized into two distinct groups according to the age of radiological evidence of NC, namely adults (n=66, 49F/17M > 18 years old) and children (n=30,15F/15M, <18 years old). Notably, Distal Renal Tubular Acidosis emerged as the predominant etiological factor in both groups, more frequent in children (43.3% versus 25.5 %) but without statistical difference, p=0.08) whereas Primary Hyperparathyroidism constituted the secondary most prevalent etiology among adults, and totally absent among the pediatric cohort (p=0.01). Hypercalciuria emerged as the principal metabolic risk factor in both groups, with an approximate prevalence of 60%. Only 5% of cases remained diagnosed. Distinct clinical profiles were observed between pediatric and adult patients. Children were more prone to present with electrolyte disturbances (47.0%), failure to thrive (50.0%), and concomitant sensorineural hearing loss (23.0%), whereas adults commonly presented with symptoms of low back pain (42.0%), predominantly attributed to the presence of nephrolithiasis, underscoring statistically significant differences between the two groups. A tendency towards a higher incidence of urological interventions among adults relative to their pediatric counterparts was observed (45.0% vs 2.6%), albeit lacking statistical significance (p=0.08). Furthermore, the prevalence of asymptomatic cases mirrored a comparable distribution across both age cohorts, comprising 16.7% among children and 21.2% among adults. Moreover, the median estimated glomerular filtration rate was significantly lower in adults than children, 85 [59-113] versus 106 [91.3-123] mL/min/1.73m2, respectively (p=0.01). Molecular analysis yielded successful diagnoses for 21 out of 29 the genetically tested cases (72.3%), predominantly in the pediatric group. Conclusion: The present study showed the elucidation of the etiological cases of NC in 95.0% of cases. The clinical presentations seemed to be quite different across the pediatric and adult groups, encompassing more tubulopathies among children and a pronounced association with nephrolithiasis among adults. The pivotal role of genetic testing in unraveling hereditary causes was underscored, confirming the diagnosis in 62.0% of cases and modifying it in 10.3% of them. These findings suggest that the implementation of a comprehensive clinical and laboratorial investigation may suffice to clarify the etiological diagnosis of NC and guide therapeutic interventions in a substantial proportion cases, but that genetic test ameliorate the accuracy.
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Citação
ANDRADE, Elenice Milhomem Ayoub. Espectro clínico e laboratorial da nefrocalcinose. 2024. 72 f. Dissertação (Mestrado em Nefrologia) – Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, 2024.