Publications by authors named "Stefania Drovandi"
Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the gene. The skeletal disorder is often associated with chronic kidney disease.
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- Primary Coenzyme Q10 (CoQ) deficiency is an ultra-rare genetic disorder that often results in nephrotic syndrome and is linked to mutations in specific genes.
- A global study of 116 patients showed that oral CoQ supplementation can lead to a significant reduction in proteinuria (by 88% at 12 months) and better preservation of kidney function over time.
- The findings suggest that all patients with primary CoQ deficiency should receive early and long-term CoQ supplementation to slow kidney disease progression and protect other organs from damage, with few mild side effects reported.
Primary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.
View Article and Find Full Text PDFBackground: Long-term outcomes after multiple courses of rituximab among children with frequently relapsing, steroid-dependent nephrotic syndrome (FRSDNS) are unknown.
Methods: A retrospective cohort study at 16 pediatric nephrology centers from ten countries in Asia, Europe, and North America included children with FRSDNS who received two or more courses of rituximab. Primary outcomes were relapse-free survival and adverse events.
This randomized clinical trial examines the superiority of a single dose of rituximab vs low-dose mycophenolate mofetil in preventing the recurrence of steroid-dependent nephrotic syndrome in children and young adults.
View Article and Find Full Text PDFBackground And Aims: IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide and a leading cause of end stage renal disease (ESRD). In addition to classical progression factors, other atherosclerosis-related factors, including hyperuricemia (HU), have been associated to the renal progression of IgAN. Increased serum uric acid (SUA) levels are well known to be concomitant of cardiovascular and kidney diseases, and have been proposed to be implicated in the development of arteriolar damage (AD).
View Article and Find Full Text PDFBackground: Antihypertensive treatment by the use of RAAS inhibitors (RAAS-is) is of paramount importance in the management of slowly progressive IgA nephropathy (IgAN). With the aim of better understanding the relationship between BP behavior and progression, we looked at time-averaged SBP and time-averaged proteinuria and renal outcome in a single-center cohort of IgAN patients.
Methods: Among 248 consecutive patients referred to the Clinic of Nephrology of San Martino Hospital from 1996 to 2018 for native renal biopsy with a diagnosis of IgAN, we retrospectively analyzed 145 with available data at baseline and during follow-up.