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A compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Front Med (Lausanne)
January 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.
View Article and Find Full Text PDFCase Report: Nephrotic syndrome as the primary manifestation of Alport syndrome in a Chinese pediatric patient.
Front Pediatr
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Alport syndrome (AS) is a genetically heterogeneous disorder resulting from variants in genes coding for the alpha-3/4/5 chains of Collagen IV, leading to defective basement membranes in the kidney, cochlea, and eye. The clinical manifestations of AS vary in patients. Cases of childhood AS caused by presenting primarily with nephrotic syndrome (NS) are rarely reported.
View Article and Find Full Text PDFSevere Hypokalemia and Respiratory Muscle Paralysis: An Atypical Manifestation of Primary Sjögren's Syndrome.
Cureus
December 2024
Internal Medicine, Hospital de Santa Luzia - Unidade Local de Saúde do Alto Minho, Viana do Castelo, PRT.
Primary Sjögren's syndrome (SS) is a systemic autoimmune disorder primarily affecting exocrine glands, that may occasionally present with severe extra-glandular manifestations. Although rarely, severe hypokalemia and respiratory muscle paralysis may be initial presentations. We report the case of a 33-year-old woman with a recent history of severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection who presented with headache and generalized muscle weakness.
View Article and Find Full Text PDFErdheim Chester Disease with Calvarial Involvement: A rare case of Histiocytosis.
Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
View Article and Find Full Text PDFA Case of Severe Lupus and Refractory Anemia.
Cureus
December 2024
Internal Medicine, Hospital da Senhora da Oliveira, Guimarães, PRT.
Systemic lupus erythematosus (SLE) is a multisystemic connective tissue disease with a wide range of clinical and laboratory manifestations. The diagnosis of SLE is often challenging due to the great variability in its presentation, and treatment should be individualized according to the patient's manifestations and affected organs. We present the clinical case of a 25-year-old female who developed SLE with severe hematological and renal involvement as first manifestations, including hemolytic anemia, thrombocytopenia, and nephrotic syndrome.
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