Genetic variation and sickle cell disease severity: a systematic review and meta-analysis
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants
O Egbuna, B Zimmerman, G Manos… - … England Journal of …, 2023 - Mass Medical Soc
Background Persons with toxic gain-of-function variants in the gene encoding
apolipoprotein L1 (APOL1) are at greater risk for the development of rapidly progressive …
apolipoprotein L1 (APOL1) are at greater risk for the development of rapidly progressive …
Management of the sickle cell trait: an opinion by expert panel members
VM Pinto, L De Franceschi, B Gianesin… - Journal of Clinical …, 2023 - mdpi.com
The number of individuals with the sickle cell trait exceeds 300 million worldwide, making
sickle cell disease one of the most common monogenetic diseases globally. Because of the …
sickle cell disease one of the most common monogenetic diseases globally. Because of the …
Apolipoprotein L1 (APOL1) cation current in HEK-293 cells and in human podocytes
DH Vandorpe, JF Heneghan, JS Waitzman… - … -European Journal of …, 2023 - Springer
Two heterozygous missense variants (G1 and G2) of Apolipoprotein L1 (APOL1) found in
individuals of recent African ancestry can attenuate the severity of infection by some forms of …
individuals of recent African ancestry can attenuate the severity of infection by some forms of …
Natural history and variability in albuminuria in pediatric and murine sickle cell anemia
It is critical to characterize the natural history of albuminuria in patients with sickle cell
anemia (SCA); however, these data are currently lacking and affecting evidence-based …
anemia (SCA); however, these data are currently lacking and affecting evidence-based …
Leveraging mathematical modeling to analyze nonadherence for hydroxyurea therapy in sickle cell disease
Nonadherence is common in individuals with sickle cell disease (SCD) on hydroxyurea
therapy and can be observed with waning improvements in hematologic parameters or …
therapy and can be observed with waning improvements in hematologic parameters or …
Emerging Therapies and Advances in Sickle Cell Disease with a Focus on Renal Manifestations
M Obadina, S Wilson, VK Derebail, J Little - Kidney360, 2023 - journals.lww.com
The underlying mechanisms of disease in sickle cell disease (SCD) contribute to a
multifaceted nephropathy, commonly manifested as albuminuria. In severe SCD genotypes …
multifaceted nephropathy, commonly manifested as albuminuria. In severe SCD genotypes …
Patogênese genética-molecular da síndrome nefrótica córtico-resistente, síndrome nefrótica congênita e glomeruloesclerose segmentar e focal: realidade e …
A Watanabe - 2023 - teses.usp.br
Síndrome nefrótica (SN) é a segunda causa mais frequente de doença renal estágio
terminal (DRET) na faixa etária pediátrica. Atualmente até 30% dos casos de SN congênita …
terminal (DRET) na faixa etária pediátrica. Atualmente até 30% dos casos de SN congênita …
Sickle Cell Disease and CKD: An Update
RSZSL Sarafb - 2023 - karger.com
Background: Sickle cell disease is an inherited red blood cell disorder that affects
approximately 100,000 people in the USA and 25 million people worldwide. Vaso-occlusion …
approximately 100,000 people in the USA and 25 million people worldwide. Vaso-occlusion …
The Kidney in Sickle Cell Disease
J Lebensburger, C Kaspar - Pediatric Kidney Disease, 2023 - Springer
Early in life, patients with sickle cell anemia are at high risk for the development of
hyposthenuria, enuresis, and hyperfiltration. Importantly, sickle cell patients are at risk for the …
hyposthenuria, enuresis, and hyperfiltration. Importantly, sickle cell patients are at risk for the …