Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA Network …, 2023 - jamanetwork.com
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 …

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 …

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 …

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 …

Natural history and variability in albuminuria in pediatric and murine sickle cell anemia

M Kasztan, I Aban, K Baker, M Ho, C Ilonze… - Blood …, 2023 - ashpublications.org
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 …

Leveraging mathematical modeling to analyze nonadherence for hydroxyurea therapy in sickle cell disease

A Pandey, R Raja, JH Estepp… - CPT: Pharmacometrics …, 2023 - Wiley Online Library
Nonadherence is common in individuals with sickle cell disease (SCD) on hydroxyurea
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 …

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 …

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 …

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 …