Clin Kidney J 2021 Jan 25;14(1):442-444. Epub 2020 May 25.
Department of Pediatrics, Division of Pediatric Nephrology, University Children's Hospital of the Rheinische Friedrich-Wilhelms-University, Bonn, Germany.
G Ital Nefrol 2021 Apr 14;38(2). Epub 2021 Apr 14.
Ospedale Infantile Regina Margherita, Torino, Italia.
Primary hyperoxaluria type 1 is a rare genetic disease; the onset of symptoms ranges from childhood to the sixth decade of life and the disease may go unrecognized for several years. There is an urgent need for drugs able to inhibit the liver production of oxalate and to prevent the disease progression; lumasiran, an innovative molecule based on RNAi interference, is one of the most promising drugs. A group of leading Italian experts on this disease met to respond to some unmet medical needs (early diagnosis, availability of genetic tests and dosage of plasma oxalate, timing of liver transplantation, need for etiologic treatment), based on the analysis of the main scientific evidence and their personal experience. Read More
J Cardiol Cases 2021 Apr 19;23(4):145-148. Epub 2020 Nov 19.
Cardiology Department, ASST Nord Milano, Ospedale E. Bassini, Cinisello Balsamo, Milano, Italy.
We report an unusual case of heart failure due to massive myocardial calcification related to a rare combination of idiopathic mitral annular calcification, myocardial calcification of the left ventricular septum and the inferior wall without other predisposing factors, such as previous myocardial infarction, ventricular aneurysms, myocarditis, rheumatic heart disease, tuberculosis, chronic renal failure, or systemic metabolic disease (sarcoidosis or primary hyperoxaluria). The related restrictive pattern of diastolic filling of the left ventricle could explain this unusual case of heart failure with preserved ejection fraction. < The prevalence of heart failure with preserved ejection fraction has increased with an increasing prevalence of risk factors. Read More
Pediatr Nephrol 2021 Apr 8. Epub 2021 Apr 8.
Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Background: Primary hyperoxaluria type 1 (PH1) is characterized by hepatic overproduction of oxalate and often results in kidney failure. Liver-kidney transplantation is recommended, either combined (CLKT) or sequentially performed (SLKT). The merits of SLKT and the place of an isolated kidney transplant (KT) in selected patients are unsettled. Read More
N Engl J Med 2021 04;384(13):1216-1226
From the Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam (S.F.G., J.W.G.); the Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem (Y.F.); the Department of Nephrology, Birmingham Women's and Children's Hospital, Birmingham (S.A.H.), and the Department of Paediatric Nephrology, Great Ormond Street Hospital (W.G.H.), and UCL Department of Renal Medicine, Royal Free Hospital (S.H.M.), London - both in the United Kingdom; Jacksonville Center for Clinical Research, Jacksonville, FL (M.J.K.); eStudySite, San Diego, CA (W.D.O.); Center for Rare Renal Diseases and INSERM Pediatric Clinical Investigation Center-Hospices Civils de Lyon and Université de Lyon, Lyon (P.C.), and the Department of Pediatric Nephrology, Hôpital Robert-Debré, Paris (G.D.) - both in France; the Pediatric Nephrology Unit, Galilee Medical Center, Nahariya (H.S.-L.), and the Pediatric Nephrology Institute, Rambam Health Care Campus, Haifa (D.M.) - both in Israel; the Icahn School of Medicine at Mount Sinai, New York (J.M.S., K.A.M.); the Department of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland (D.G.F.); the University of Bonn, Bonn, Germany (G.S.); Al Jalila Children's Hospital, Dubai, United Arab Emirates (E.S.); the Divisions of Pediatric Nephrology and Hypertension (D.J.S.) and Nephrology and Hypertension (J.C.L.), Mayo Clinic, Rochester, MN; and Alnylam Pharmaceuticals, Cambridge, MA (J.L., M.T.S., P.P.G., A.K.V., J.M.G., T.L.M.).
Background: Primary hyperoxaluria type 1 (PH1) is a rare genetic disease caused by hepatic overproduction of oxalate that leads to kidney stones, nephrocalcinosis, kidney failure, and systemic oxalosis. Lumasiran, an investigational RNA interference (RNAi) therapeutic agent, reduces hepatic oxalate production by targeting glycolate oxidase.Methods: In this double-blind, phase 3 trial, we randomly assigned (in a 2:1 ratio) patients with PH1 who were 6 years of age or older to receive subcutaneous lumasiran or placebo for 6 months (with doses given at baseline and at months 1, 2, 3, and 6). Read More
Urology 2021 Mar 24. Epub 2021 Mar 24.
Department of Urology, UCSF, San Francisco, CA. Electronic address:
Primary hyperoxaluria 1 (PH1) is a devastating condition involving recurrent urolithiasis, early end-stage renal disease (ESRD) and multisystemic deposition of calcium oxalate crystals. Treatment options for PH1 are limited, inevitably requiring transplantation, usually combined kidney and liver transplant. Here we report successful compassionate use of Nedosiran, an RNA interference (RNAi) targeting lactate dehydrogenase (LDH), in an index patient. Read More