No abstract

One of the major chronic complications of sickle cell disease (SCD) is sickle cell nephropathy. The aim of this review is to discuss the pathophysiology, natural history, clinical manifestations, risk factors, biomarkers and therapeutic approaches for sickle cell nephropathy, focusing on studies with pediatric patients. The earliest manifestation of renal disease is an increase in the glomerular filtration rate. A finding that may also be observed in early childhood is microalbuminuria. Nephrin, KIM-1, VGFs, chemokines and renin-angiotensin system molecules have emerged as potential early markers of renal dysfunction in SCD. In regards to a therapeutic approach, renin-angiotensin system inhibitors and angiotensin receptor blockers seem to be effective for the control of albuminuria in adults with SCD, although new studies in children are needed. The precise moment to begin renoprotection in SCD patients who should be treated remains to be determined.

RESUMO

Introdução: as infecções congênitas são resultantes da transmissão vertical de microrganismos de gestantes infectadas para seus conceptos. Apesar dessas infecções, em geral, cursarem com pouca ou nenhuma manifestação clínica nas gestantes, a infecção fetal pode trazer morbimortalidade perinatal e na infância. Objetivo: identificar a prevalência das infecções congênitas encaminhadas ao Centro de Referência e Treinamento em Doenças Infecciosas e Parasitárias Orestes Diniz (CTR/DIP Orestes Diniz) e avaliar os métodos laboratoriais usados para o diagnóstico. Métodos: estudo transversal realizado em ambulatório de referência em doenças infecciosas, a partir de coleta de dados de prontuários de crianças com diagnóstico suspeito de infecção congênita. A confirmação diagnóstica baseou-se em testes sorológicos ou de biologia molecular, além de descrição de sintomatologia da criança. Resultados: um total de 513 crianças foram identificadas, sendo que 41,3% tiveram o diagnóstico confirmado, a maioria foi de toxoplasmose (45,35%) e sífilis (15,98%). Entre as crianças com diagnóstico confirmado, 28,85% apresentaram manifestações clínicas, enquanto que no grupo com diagnóstico indeterminado ou suspeito o percentual foi de 16,38%. As principais manifestações identificadas foram acometimento do sistema nervoso central (n=39) e alterações visuais (n=30). Conclusão: a confirmação de infecção foi definida em aproximadamente metade dos pacientes avaliados e a maioria das crianças foi assintomática ao nascimento. O pré-natal de qualidade e a propedêutica e tratamento precoce das crianças identificadas podem reduzir o impacto dessas infecções no nosso meio.

Background: Solitary functioning kidney (SFK) is a subgroup of the Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT). Although in the past the prognosis of these patients was considered good, numerous studies have shown different levels of kidney damage associated with this condition. Serum creatinine measurement is still the most used marker to assess renal function, even though the limitations are widely known. Objective: The present review aimed to summarize and update the scientific literature on congenital SFK, discussing its pathophysiology, diagnosis, complications, prognosis, role of novel urinary biomarkers, treatment and follow-up. Results: The natural history of congenital SFK is still an unresolved issue due to several factors. Although it has not yet been proven in humans, Brenner’s hyperfiltration hypothesis is the most concrete theory to explain the poor renal outcomes of patients born with one functioning kidney. The search for novel urinary biomarkers capable of assessing renal function and predicting renal outcomes has already started, but there are still few studies with this specific population. Among the most studied markers, Cystatin C, EGF and NGAL have shown potential usefulness for the follow-up of these patients. The treatment still relies on the search for kidney injury and general renoprotective measures. Conclusion: Further research with longer follow-up duration is needed to better understand the natural course of congenital SFK and the role of novel urinary biomarkers in this specific population. Thus, it will be possible to improve the prognosis of these patients.