Publications by authors named "B Llanas"

Article Synopsis
  • - The study focuses on the impact of Hepatocyte Nuclear Factor 1-beta (HNF1B) gene variants and chromosome 17q12 deletion (17q12del) on kidney disease progression, particularly chronic kidney disease (CKD), in a large cohort of 521 patients.
  • - Findings reveal that patients with the 17q12del experience a significant delay in the progression to CKD stage 3 compared to those with other HNF1B variants, with specific mutations in the DNA-binding domains correlating with even better outcomes.
  • - Additionally, the 17q12del is linked to lower magnesium levels (hypomagnesemia) and higher likelihood of elevated uric acid levels (hyperuric
View Article and Find Full Text PDF

Introduction: Leptospirosis is an anthropozoonosis with polymorphic clinical symptoms and a high variability of severity, ranging from flu-like syndrome to severe acute kidney injury. This disease is highly incident in tropical regions but there is a trend towards increasing incidence in metropolitan France and in Reunion Island. The objective of this study was to describe the epidemiological, clinical, laboratory and therapeutic characteristics of the pediatric leptospirosis in metropolitan France and in Reunion Island.

View Article and Find Full Text PDF

Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by congenital hepatic fibrosis and cystic kidney disease. Lack of data about long-term follow-up makes it difficult to discuss timing and type of organ transplantation. Our objectives were to evaluate long-term evolution and indications for transplantation, from birth to adulthood.

View Article and Find Full Text PDF

Acute graft-versus-host disease (GVHD) is a rare but frequently lethal complication after solid organ transplantation. GVHD occurs in unduly immunocompromised hosts but requires the escalation of immunosuppression, which does not discriminate between host and donor cells. In contrast, donor-targeted therapy would ideally mitigate graft-versus-host reactivity while sparing recipient immune functions.

View Article and Find Full Text PDF

The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied.

View Article and Find Full Text PDF