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Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.

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Predicting the risks of progression to chronic kidney disease (CKD) stage 5 in idiopathic nephrotic syndrome (NS) and recurrence of the disease (rNS) following kidney transplantation (KT) is a key assessment to provide essential management information. NS has been categorized etiologically as genetic and immune-based. A genetic cause can be identified in ~ 30% of children with steroid-resistant NS (SRNS), a finding associated with a very low risk of rNS following KT.

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Recent progress in xenotransplantation and its application to pediatric kidney disease.

Pediatr Nephrol

January 2025

Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, 105-8461, Japan.

Patients with kidney failure require dialysis or kidney transplantation. Kidney transplantation offers great benefits, including reduced mortality; however, many patients who wish to undergo kidney transplantation are unable to do so due to a shortage of donor organs. This shortage is a global issue, and xenotransplantation has emerged as a potential solution.

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Hepatitis B virus (HBV) infection is a major global health concern, with liver transplantation (LT) serving as a critical treatment for end-stage liver disease caused by HBV. However, the risk of HBV reinfection after LT remains significant, necessitating effective prophylaxis. Today, the combination of hepatitis B immune globulin (HBIG) and high-barrier nucleos(t)ide analogues (NUCs) is the standard of care for preventing HBV recurrence post-LT but concerns about the cost of HBIG and access to high-barrier NUCs have led to a reduction in the use, dose, and duration of HBIG in recent years.

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