Inherited Fanconi syndrome.

BACKGROUND: Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities. DATA SOURCES: We searched Pubmed and Scopus databases to find relevant articles about FRST. This review article focuses on the physiology of the PCT, as well as on the physiopathology of FRST in children, its diagnosis, and treatment. RESULTS: FRST encompasses a wide variety of inherited and acquired PCT alterations that lead to impairment of PCT reabsorption. In children, FRST often presents as a secondary feature of systemic disorders that impair energy supply, such as Lowe's syndrome, Dent's disease, cystinosis, hereditary fructose intolerance, galactosemia, tyrosinemia, Alport syndrome, and Wilson's disease. Although rare, congenital causes of FRST greatly impact the morbidity and mortality of patients and impose diagnostic challenges. Furthermore, its treatment is diverse and considers the ability of the clinician to identify the correct etiology of the disease. CONCLUSION: The early diagnosis and treatment of pediatric patients with FRST improve the prognosis and the quality of life.

Imaging Markers of Neurologic Damage in COVID-19: A Systematic Review.

BACKGROUND AND OBJECTIVES: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection commonly leads to neurologic manifestations. In the present review, we aimed to investigate potential neuroimaging markers of early diagnosis and prognosis of neurologic manifestations in COVID-19. METHODS: Our study was registered in the Prospective Register of Systematic Reviews (PROSPERO) under the protocol CDR42021265443. Based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we selected 51 studies for whole-manuscript analysis. RESULTS: Magnetic resonance imaging (MRI) was the most common imaging method. The pattern, sites of lesion, signs, and symptoms of neurologic injury varied. Such manifestations possibly resulted from a direct viral infection or, most likely, from indirect mechanisms including coagulation disturbances, hypoxemia, and immunological responses. CONCLUSION: The heterogeneity of the studies precludes any generalization of the findings. Brain MRI is the most informative imaging exam. Population studies, including the entire spectrum of COVID-19 are missing. There is still a need for future population studies evaluating neurologic manifestations of all COVID-19 severities acutely and chronically.