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Bilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.
Ophthalmic Genet
November 2024
School of Medicine, University of Colorado, Aurora, USA.
Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.
View Article and Find Full Text PDFIs Severe Dengue a Cytokine Storm Syndrome?
Indian Pediatr
November 2024
Department of Pediatric Rheumatology, Institute of Child Health, Kolkata, West Bengal, India.
Article Synopsis
- The mechanisms behind severe dengue remain unclear, but evidence suggests a temporary hyperinflammatory state linked to severe symptoms such as bleeding, organ dysfunction, and blood complications.
- Studies show dengue can cause hemophagocytic lymphohistiocytosis (HLH), but its cytokine responses may not fit traditional HLH diagnostic standards.
- The recent COVID-19 pandemic has changed how we view cytokine storms in infections, highlighting the need for short-term immunotherapy for certain dengue patients nearing critical illness stages.
Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.
Nephron
September 2024
Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Ranica, Italy.
Introduction: Lysinuric protein intolerance (LPI) is a multisystemic inborn error of metabolism with a variable clinical expressivity that usually begins in childhood with growth failure and gastroenterological/neurological problems related to the altered urea cycle and, later, with complications involving the renal, pulmonary, and immunohematological systems.
Case Report: We present the case of a 40-year-old woman suffering from chronic kidney disease in the context of a LPI, whose diagnosis was challenging because the signs of the disease were always blurred and the patient never manifested critical episodes typical of this multisystemic disease. In addition to renal disease, splenomegaly, thrombocytopenia, elevated lactate dehydrogenase (LDH), hyperferritinemia, and hypertriglyceridemia were also present.
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders.
J Clin Immunol
September 2024
Division of Pediatric Rheumatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
High ferritin is an important and sensitive biomarker for the various forms of hemophagocytic lymphohistiocytosis (HLH), a diverse and deadly group of cytokine storm syndromes. Early action to prevent immunopathology in HLH often includes empiric immunomodulation, which can complicate etiologic work-up and prevent collection of early/pre-treatment research samples. To address this, we instituted an alert system at UPMC Children's Hospital where serum ferritin > 1000 ng/mL triggered real-time chart review, assessment of whether the value reflected "inflammatory hyperferritnemia (IHF)", and biobanking of remnant samples from consenting IHF patients.
View Article and Find Full Text PDFGenetics of Primary Hemophagocytic Lymphohistiocytosis.
Adv Exp Med Biol
August 2024
Immune Dysregulation Program and Division of Infectious Diseases, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Hemophagocytic lymphohistiocytosis (HLH) constitutes a rare, potentially life-threatening hyperinflammatory immune dysregulation syndrome that can present with a variety of clinical signs and symptoms, including fever, hepatosplenomegaly, and abnormal laboratory and immunological findings such as cytopenias, hyperferritinemia, hypofibrinogenemia, hypertriglyceridemia, elevated blood levels of soluble CD25 (interleukin (IL)-2 receptor α-chain), or diminished natural killer (NK)-cell cytotoxicity (reviewed in detail in Chapter 11 of this book). While HLH can be triggered by an inciting event (e.g.
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