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Stein Q, Herman K, Deyo J, McDonough C, Bloom MS, Mansuri A. Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male. Pediatr Nephrol 2023; 38:3189-3192. [PMID: 36646975 PMCID: PMC10432312 DOI: 10.1007/s00467-023-05873-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/26/2022] [Revised: 12/26/2022] [Accepted: 12/27/2022] [Indexed: 01/18/2023]
Abstract
BACKGROUND Sickle cell disease (SCD) and autosomal dominant polycystic kidney disease (ADPKD) are relatively common genetic conditions with considerable overlap in clinical presentation. In addition to similarities between the signs and symptoms in sickle cell nephropathy and ADPKD, more than half of SCD patients have kidney cysts. The co-occurrence of these two diseases has not been previously reported in the literature. CASE DIAGNOSIS/TREATMENT A 16-year-old Black male with SCD had bilateral kidney enlargement and multiple simple cysts on ultrasound. Although kidney cysts are significantly more common in individuals affected with SCD, genetic testing with a broad kidney gene panel was performed to explore the possible presence of another underlying genetic cause of his cysts, in addition to SCD. A dual diagnosis of SCD and ADPKD was made following the identification of two copies of the common pathogenic sickle cell HBB variant (c.20A > T, p.Glu7Val) and a pathogenic missense variant in PKD1 (c.8311G > A, p.Glu2771Lys). CONCLUSIONS SCD and ADPKD differ in pathophysiological mechanisms and treatment regimens. As such, it will be paramount for this teenager to be closely monitored for signs of diminished kidney function and to be co-managed as he transitions to adult care to ensure proper treatment and management. Early identification of individuals with both SCD and a co-occurring condition is crucial to ensuring proper clinical management. Furthermore, identifying and reporting additional patients with SCD and ADPKD dual diagnoses will help us to understand the co-occurring disease course and optimal treatments.
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Solomon N, Segaran N, Badawy M, Elsayes KM, Pellerito JS, Katz DS, Moshiri M, Revzin MV. Manifestations of Sickle Cell Disorder at Abdominal and Pelvic Imaging. Radiographics 2022; 42:1103-1122. [PMID: 35559660 DOI: 10.1148/rg.210154] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Abstract
Sickle cell disorder (SCD) refers to a spectrum of hematologic disorders that cause a characteristic clinical syndrome affecting the entire body. It is the most prevalent monogenetic hemoglobinopathy worldwide, with a wide range of focal and systemic expressions. Hemoglobin gene mutation leads to the formation of abnormal sickle-shaped red blood cells, which cause vascular occlusion and result in tissue and organ ischemia and infarction. Recurrent episodes of acute illness lead to progressive multisystem organ damage and dysfunction. Vaso-occlusion, hemolysis, and infection as a result of functional asplenia are at the core of the disease manifestations. Imaging plays an essential role in the diagnosis and management of SCD-related complications in the abdomen and pelvis. A thorough understanding of the key imaging findings of SCD complications involving hepatobiliary, gastrointestinal, genitourinary, and musculoskeletal systems is crucial to timely recognition and accurate diagnosis. The authors aim to familiarize the radiologist with the SCD spectrum, focusing on the detection and evaluation of manifestations that may appear at imaging of the abdomen and pelvis. The topics the authors address include (a) the pathophysiology of the disease, (b) the placement of SCD among hemoglobinopathies, (c) the clinical presentation of SCD, (d) the role of imaging in the evaluation and diagnosis of patients with SCD who present with abdominal and pelvic manifestations in addition to extraperitoneal manifestations detectable at abdominal or pelvic imaging, (e) imaging features associated with common and uncommon sequelae of SCD in abdominal and pelvic imaging studies, and (f) a brief overview of management and treatment of patients with SCD. Online supplemental material is available for this article. ©RSNA, 2022.
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Affiliation(s)
- Nadia Solomon
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Nicole Segaran
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Mohamed Badawy
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Khaled M Elsayes
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - John S Pellerito
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Douglas S Katz
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Mariam Moshiri
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
| | - Margarita V Revzin
- From the Department of Radiology and Biomedical Imaging, 333 Cedar Street, PO Box 208042 Room TE-2, New Haven, CT 06520 (N. Solomon, M.V.R.); Stanford University, Stanford, Calif (N. Segaran); Department of Imaging Physics (M.B.) and Department of Abdominal Imaging (K.M.E.), University of Texas MD Anderson Cancer Center, Houston, Tex; Department of Radiology, Zucker School of Medicine at Hofstra/Northwell, Northwell Health System, Manhasset, N.Y. (J.S.P.); Department of Radiology, NYU Winthrop University Hospital, Mineola, N.Y. (D.S.K.); and Department of Radiology, University of Washington Medical Center, Seattle Wash. (M.M.)
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Safdar OY, Baghdadi RM, Alahmadi SA, Fakieh BE, Algaydi AM. Sickle cell nephropathy: A review of novel biomarkers and their potential roles in early detection of renal involvement. World J Clin Pediatr 2022; 11:14-26. [PMID: 35096543 PMCID: PMC8771312 DOI: 10.5409/wjcp.v11.i1.14] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/28/2021] [Revised: 08/12/2021] [Accepted: 11/15/2021] [Indexed: 02/06/2023] Open
Abstract
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. This makes the quest for early diagnosis and treatment more challenging, and it increases the burden of chronic kidney disease-related morbidity among patients. Novel diagnostic tools have been employed to overcome this limitation. In this study, we discuss various biomarkers of SCN, including those employed in clinical practice and others recently identified in experimental settings, such as markers of vascular injury, endothelial dysfunction, tubulo-glomerular damage, and oxidative stress. These include kidney injury molecule-1, monocyte chemoattractant protein-1, N-acetyl-B-D-glucosaminidase, ceruloplasmin, orosomucoid, nephrin, and cation channels, among others. Furthermore, we explore the potential of novel biomarkers for refining diagnostic and therapeutic approaches and describe some obstacles that still need to be overcome. We highlight the importance of a collaborative approach to standardize the use of promising new biomarkers. Finally, we outline the limitations of conventional markers of renal damage as extensions of the pathogenic process occurring at the level of the organ and its functional subunits, with a discussion of the expected pattern of clinical and biochemical progression among patients with SCN.
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Affiliation(s)
- Osama Y Safdar
- Department of Pediatric, King Abdulaziz University, JEDDAH 21414, Saudi Arabia
| | - Rana M Baghdadi
- College of Medicine, King Abdulaziz University, JEDDAH 21422, Saudi Arabia
| | - Sereen A Alahmadi
- College of Medicine, King Abdulaziz University, JEDDAH 21422, Saudi Arabia
| | - Bana E Fakieh
- College of Medicine, King Abdulaziz University, JEDDAH 21422, Saudi Arabia
| | - Amaal M Algaydi
- College of Medicine, King Abdulaziz University, JEDDAH 21422, Saudi Arabia
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