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Hepatol Commun 2022 Jun 14. Epub 2022 Jun 14.

Liver Institute Northwest and Elson S. Floyd College of Medicine, Washington State University, Washington, USA.

Iron overload disorders represent a variety of conditions that lead to increased total body iron stores and resultant end-organ damage. An elevated ferritin and transferrin-iron saturation can be commonly encountered in the evaluation of elevated liver enzymes. Confirmatory homeostatic iron regulator (HFE) genetic testing for C282Y and H63D, mutations most encountered in hereditary hemochromatosis, should be pursued in evaluation of hyperferritinemia. Read More

J Clin Med 2022 May 31;11(11). Epub 2022 May 31.

Department of Pediatrics, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, 395 Preston Research Building, 2220 Pierce Ave., Nashville, TN 37232, USA.

The goal of curing children and adults with sickle cell disease (SCD) is to maximize benefits and minimize intermediate and long-term adverse outcomes so that individuals can live an average life span with a high quality of life. While greater than 2000 individuals with SCD have been treated with curative therapy, systematic studies have not been performed to evaluate the long-term health effects of hematopoietic stem cell transplant (HSCT) in this population. Individuals with SCD suffer progressive heart, lung, and kidney disease prior to curative therapy. Read More

Cells 2022 Jun 4;11(11). Epub 2022 Jun 4.

Cellular and Molecular Therapeutics Branch, National Heart Lung and Blood Institutes (NHLBI)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

Autologous hematopoietic stem cell (HSC)-targeted gene therapy provides a one-time cure for various genetic diseases including sickle cell disease (SCD) and β-thalassemia. SCD is caused by a point mutation (20A > T) in the β-globin gene. Since SCD is the most common single-gene disorder, curing SCD is a primary goal in HSC gene therapy. Read More

Nat Genet 2022 Jun 26;54(6):874-884. Epub 2022 May 26.

Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

The mechanisms by which the fetal-type β-globin-like genes HBG1 and HBG2 are silenced in adult erythroid precursor cells remain a fundamental question in human biology and have therapeutic relevance to sickle cell disease and β-thalassemia. Here, we identify via a CRISPR-Cas9 genetic screen two members of the NFI transcription factor family-NFIA and NFIX-as HBG1/2 repressors. NFIA and NFIX are expressed at elevated levels in adult erythroid cells compared with fetal cells, and function cooperatively to repress HBG1/2 in cultured cells and in human-to-mouse xenotransplants. Read More

Int J Biochem Mol Biol 2022 15;13(2):5-16. Epub 2022 Apr 15.

Department of Pharmaceutical Biochemistry, Faculty of Medicine, Pharmacy and Dentistry, Cheikh Anta Diop University Dakar, Senegal.

Objective: Sickle cell anemia (SCA) can cause substantial kidney dysfunction resulting in sickle cell nephropathy, which may be affected by the presence of modifier genes. This study evaluates the effects of some modifier genes on sickle cell nephropathy.

Methods: Patients living with SCA were recruited. Read More

Indian J Nephrol 2022 Mar-Apr;32(2):164-167. Epub 2022 Mar 9.

Nephrology Unit, Zenith Medical and Kidney Center, Gudu, Abuja, Nigeria.

Sickle cell nephropathy is one of the long-term complications of sickle cell disease (SCD). About a quarter of SCD patients who survive up to 40 years of age will require some form of renal replacement therapy in their lifetime. Organ transplantation in SCD patients poses great challenges, particularly in lower middle income countries (LMIC) like Nigeria. Read More

Kidney Int Suppl (2011) 2022 Apr 18;12(1):69-75. Epub 2022 Mar 18.

Division of Nephrology and Hypertension, University of Miami Miller School of Medicine, Miami, Florida, USA.

The recent successful demonstrations that the nonsteroidal mineralocorticoid receptor (MR) antagonist finerenone provides effective kidney and cardiovascular (CV) protection in patients with chronic kidney disease (CKD) and type 2 diabetes constitutes a platform for considering and implementing an array of future clinical trials in patients with nondiabetic CKD. Activation of the MR, with consequent inflammation and fibrosis, should be operative as a pathogenetic mediator not only in patients with diabetic CKD but also in those with nondiabetic kidney disease. Consequently, it is proposed that MR antagonism therapy will be equally efficacious in patients with nondiabetic CKD. Read More

Dis Markers 2022 23;2022:2883029. Epub 2022 Apr 23.

Department of Ophthalmology, The First Affiliated Hospital of Nanchang University, Jiangxi Branch of National Clinical Research Center for Ocular Disease, Nanchang 330006, China.

Renal cell carcinoma (RCC) appears to be a high risk of spread. This research investigated the correlation between a different range of clinical features and intraocular metastasis (IOM) in RCC patients and attempted to determine potential risk factors of RCC patients with IOM. In the study, there are a total of 351 patients with RCC that were recruited between May 1994 and May 2016. Read More

Front Immunol 2022 12;13:860689. Epub 2022 Apr 12.

Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.

As part of the innate immune system, the complement system plays a key role in defense against pathogens and in host cell homeostasis. This enzymatic cascade is rapidly triggered in the presence of activating surfaces. Physiologically, it is tightly regulated on host cells to avoid uncontrolled activation and self-damage. Read More

Am J Med 2022 Apr 22. Epub 2022 Apr 22.

Program for Personalized Cancer Care, Evanston, Ill; Department of Surgery, NorthShore University HealthSystem, Evanston, Ill; Department of Surgery, University of Chicago Pritzker School of Medicine, Ill. Electronic address:

Background: Sickle cell trait is typically considered benign. Although evidence remains inconsistent, recent studies suggest that it is associated with several common diseases. We systematically assessed associations of sickle cell trait with reported diseases in a large population-based cohort. Read More

Kidney360 2021 11 25;2(11):1865-1866. Epub 2021 Nov 25.

Division of Nephrology, Department of Internal Medicine, Saint Louis University, St. Louis, Missouri.

Kidney360 2021 08 8;2(8):1251-1260. Epub 2021 Apr 8.

Department of Epidemiology, Tulane University School of Public Health and Tropical Medicine, New Orleans, Louisiana.

Background: In the general population, genetic risk for high BP has been associated with cardiovascular disease, but not kidney function or incident CKD. These relationships have not been studied longitudinally in participants with CKD. We examined whether BP genetic risk predicts cardiovascular disease and kidney disease progression in patients with CKD. Read More

Blood Cells Mol Dis 2022 Jul 12;95:102660. Epub 2022 Mar 12.

Sickle Cell Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Polymerization of deoxygenated sickle hemoglobin (HbS) leads to erythrocyte sickling. Enhancing activity of the erythrocyte glycolytic pathway has anti-sickling potential as this reduces 2,3-diphosphoglycerate (2,3-DPG) and increases ATP, factors that decrease HbS polymerization and improve erythrocyte membrane integrity. These factors can be modulated by mitapivat, which activates erythrocyte pyruvate kinase (PKR) and improves sickling kinetics in SCD patients. Read More

BMC Nephrol 2022 03 18;23(1):110. Epub 2022 Mar 18.

Department of Pediatrics, Ryan White Center for Pediatric Infectious Disease and Global Health, Indiana University School of Medicine, Indianapolis, IN, USA.

Background: Children with sickle cell anemia (SCA) are at increased risk of acute kidney injury (AKI) that may lead to death or chronic kidney disease. This study evaluated AKI prevalence and risk factors in children with SCA hospitalized with a vaso-occlusive crisis (VOC) in a low-resource setting. Further, we evaluated whether modifications to the Kidney Disease: Improving Global Outcomes (KDIGO) definition would influence clinical outcomes of AKI in children with SCA hospitalized with a VOC. Read More

J Pediatr 2022 Jul 2;246:207-212.e1. Epub 2022 Mar 2.

Duke University School of Medicine, Durham, NC.

Objectives: To identify pediatric patient-reported outcomes (PROs) that are associated with chronic conditions and to evaluate the effects of chronic disease activity on PROs.

Study Design: Participants (8-24 years old) and their parents were enrolled into 14 studies that evaluated Patient-Reported Outcome Measurement Information System PROs across 10 chronic conditions-asthma, atopic dermatitis, cancer, cancer survivors, chronic kidney disease, Crohn's disease, juvenile idiopathic arthritis, lupus, sickle cell disease, and type 1 diabetes mellitus. PRO scores were contrasted with the US general population of children using nationally representative percentiles. Read More

J Pediatr 2022 Jun 28;245:102-110.e2. Epub 2022 Feb 28.

Division of Infectious Diseases, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Antimicrobial Stewardship Program, Boston Children's Hospital, Boston, MA. Electronic address:

Objective: To identify subgroups likely to benefit from monoclonal antibody and antiviral therapy by evaluating the relationship between comorbidities and hospitalization among US adolescents with symptomatic coronavirus disease 2019 (COVID-19).

Study Design: We analyzed the relationship between presence of comorbidities and need for hospitalization within 28 days of COVID-19 diagnosis for adolescents aged 12-17 years listed in the Pediatric COVID-19 US registry, a multicenter retrospective cohort of US pediatric patients with COVID-19. Comorbidities assessed included obesity, chronic kidney disease (CKD), diabetes, immunosuppressive disease or treatment, sickle cell disease (SCD), heart disease, neurologic disease/neurodevelopmental disorders, and pulmonary disease (excluding patients with mild asthma). Read More

Afr Health Sci 2021 Sep;21(3):1237-1242

Kidney Care Centre, department of Medicine, University of Medical Sciences Teaching Hospital, Ondo State.

Introduction: Prospective blood donors are routinely screened for blood borne infections but medical illnesses and haemoglobin genotype are overlooked despite a high prevalence of haemoglobin AS among Nigerian donors.

Objective: To determine the prevalence of haemoglobin AS and its association to renal function, if any.

Method: Apparently healthy donors were studied between February and December 2018. Read More

Clin Transplant 2022 Jun 4;36(6):e14626. Epub 2022 Mar 4.

Department of Medicine, Houston Methodist Hospital, Houston, Texas, USA.

Most transplant centers do not screen kidney donor candidates for sickle cell trait (SCT) and many decline candidates with SCT since it may associate with kidney disease. We compared 17 kidney donors with SCT to propensity score matched donor controls on mortality, reduced eGFR, proteinuria and kidney failure. The prevalence of SCT in African American (AA) donors was 11 per 1000 compared to 73 per 1000 in non-donor AA. Read More

Am J Case Rep 2022 Feb 23;23:e934220. Epub 2022 Feb 23.

Nephrology Dialysis and Renal Transplantation Unit, IRCCS Azienda Ospedaliero Universitaria di Bologna, Department of Experimental, Diagnostic and Speciality Medicine (DIMES), University of Bologna, Bologna, Italy.

BACKGROUND Rhabdomyolysis is a syndrome characterized by muscle necrosis and the subsequent release of intracellular muscle constituents into the bloodstream. Although the specific cause is frequently evident from the history or from the immediate events, such as a trauma, extraordinary physical exertion, or a recent infection, sometimes there are hidden risk factors that have to be identified. For instance, individuals with sickle cell trait (SCT) have been reported to be at increased risk for rare conditions, including rhabdomyolysis. Read More

Nat Rev Nephrol 2022 Jun 21;18(6):361-377. Epub 2022 Feb 21.

Division of Nephrology and Hypertension, University of North Carolina, Chapel Hill, NC, USA.

Sickle cell syndromes, including sickle cell disease (SCD) and sickle cell trait, are associated with multiple kidney abnormalities. Young patients with SCD have elevated effective renal plasma flow and glomerular filtration rates, which decrease to normal ranges in young adulthood and subnormal levels with advancing age. The pathophysiology of SCD-related nephropathy is multifactorial - oxidative stress, hyperfiltration and glomerular hypertension are all contributing factors. Read More

Exp Biol Med (Maywood) 2022 02 16;247(4):368-374. Epub 2022 Feb 16.

Department of Neurology and Rehabilitation Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.

Sickle cell disease (SCD) is characterized by vaso-occlusion, hemolysis, and systemic manifestations that form the hallmark of the disease. Apart from morbidity, SCD is also associated with increased mortality and decreased quality of life. Aging is a natural phenomenon that is associated with changes at cellular, tissue, and organ levels, in addition to the loss of physical fitness, increased susceptibility to diseases, and a higher likelihood of mortality. Read More

PLoS One 2022 3;17(2):e0263424. Epub 2022 Feb 3.

Hematology and Transfusion Center, University of Campinas-UNICAMP, Campinas, São Paulo, Brazil.

Background: Sickle cell disease (SCD) incurs vaso-occlusive episodes and organ damage, including nephropathy. Despite displaying characteristics of vascular dysfunction, SCD patients tend to present relatively lower systemic blood pressure (BP), via an unknown mechanism. We investigated associations between BP and renin-angiotensin-system (RAS) components in SCD and determined whether an inhibitor of angiotensin converting enzyme (ACE; often used to slow SCD glomerulopathy) further modulates BP and RAS components in a murine model of SCD. Read More

Saudi J Kidney Dis Transpl 2021 May-Jun;32(3):851-854

Department of Nephrology, Tricolour Hospital, Vadodara, Gujarat, India.

Classic distal renal tubular acidosis (dRTA) is characterized by inability to acidify the urine maximally (to Read More

World J Clin Pediatr 2022 Jan 9;11(1):14-26. Epub 2022 Jan 9.

College of Medicine, King Abdulaziz University, JEDDAH 21422, Saudi Arabia.

Whether the underlying mutations are homozygous, heterozygous, or co-inherited with other hemoglobinopathies, sickle cell disease is known to afflict the kidneys, leading to the clinical entity known as sickle cell nephropathy (SCN). Although common, SCN remains diagnostically elusive. Conventional studies performed in the context of renal disorders often fail to detect early stage SCN. Read More

Saudi J Kidney Dis Transpl 2021 Mar-Apr;32(2):428-436

Department of Pediatrics, Federal Medical Centre, Asaba, Delta State, Nigeria.

Acute kidney injury (AKI) is an abrupt or rapid decline in renal function as evidenced by a rapid rise in serum creatinine (SCr) or decrease in urine output. AKI occurs in children. The aim of the study is to document the epidemiology of AKI in our setting. Read More

Pediatr Radiol 2022 Jan 11. Epub 2022 Jan 11.

Department of Radiology, Sainte-Justine Hospital and Research Center, University of Montreal, 3175 Chemin de la Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

Intima-media thickness is a known subclinical radiologic marker of the early manifestations of atherosclerotic disease. It is the thickness of the vessel wall, most often the carotid artery. Intima-media thickness is measured on conventional US manually or automatically. Read More

Georgian Med News 2021 Dec(321):36-41

Tbilisi State Medical University, Department of Pediatrics, Georgia.

Objectives - the associations between vitamin D concentrations and respiratory diseases have been assessed in a large and rapidly expanding literature. Observational studies and numerous randomized trials. Data sources: - Medline, Embase, the Cochrane Central Register of Controlled Trials, Web of Science, ClinicalTrials. Read More

Pediatr Crit Care Med 2022 03;23(3):e153-e161

The Children's Hospital of Philadelphia Pediatric Sepsis Program, Philadelphia, PA.

Objectives: Avascular necrosis (AVN) is a rare, but serious, complication after sepsis in adults. We sought to determine if sepsis is associated with postillness diagnosis of AVN, as well as potential-associated risk factors for AVN in children with sepsis.

Design: Retrospective observational study. Read More

Cochrane Database Syst Rev 2021 12 21;12:CD009191. Epub 2021 Dec 21.

Benign Hematology, Miami Cancer Institute, Miami, Florida, USA.

Background: Sickle cell disease is a group of disorders characterized by deformation of erythrocytes. Renal damage is a frequent complication in sickle cell disease as a result of long-standing anemia and disturbed circulation through the renal medullary capillaries. Due to the improvement in life expectancy of people with sickle cell disease, there has been a corresponding significant increase in the incidence of renal complications. Read More

N Engl J Med 2022 01 12;386(2):138-147. Epub 2021 Dec 12.

From Bluebird Bio, Cambridge, MA (S.G., D.W., H.B., P.D.G., G.P., M.F., A.Y., M.G., S.B.V., A.M., J.L., R.A.C., M.B.); the Cellular and Molecular Therapeutics Branch, National Heart, Lung, and Blood Institute-National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (J.T.); GeneWerk, Heidelberg, Germany (M.S.); the University of Alabama at Birmingham, Birmingham (J.K.); and the Division of Pediatric Hematology-Oncology, Medical University of South Carolina, Charleston (J.J.).

Gene therapy with LentiGlobin for sickle cell disease (bb1111, lovotibeglogene autotemcel) consists of autologous transplantation of a patient's hematopoietic stem cells transduced with the BB305 lentiviral vector that encodes the β-globin gene. Acute myeloid leukemia developed in a woman approximately 5.5 years after she had received LentiGlobin for sickle cell disease as part of the initial cohort (Group A) of the HGB-206 study. Read More