Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia

• Published in: Pediatric Rheumatology Vol. 19; no. 1; p. 104
• Main Authors: Ventura-Espejo, Laura, Gracia-Darder, Inés, Escribá-Bori, Silvia, Amador-González, Eva Regina, Martín-Santiago, Ana, Ramakers, Jan
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 30.06.2021; BioMed Central; BMC
• Subjects: Antibodies; Antibodies, Monoclonal, Humanized - therapeutic use; Biopsy; Bone marrow; Cardiogenic shock; Cardiomyopathy; Cardiomyopathy, Dilated - diagnostic imaging; Cardiomyopathy, Dilated - physiopathology; Cardiomyopathy, Dilated - therapy; Care and treatment; Case Report; Child; Chromatography; Coronaviruses; COVID-19; Cytokines; Diabetes; Digital ischemia; Disease; Edema; Genetic aspects; Genotype & phenotype; Glucocorticoids - therapeutic use; H syndrome; Health aspects; Heart failure; Hereditary Autoinflammatory Diseases - diagnosis; Hereditary Autoinflammatory Diseases - genetics; Hereditary Autoinflammatory Diseases - physiopathology; Hereditary Autoinflammatory Diseases - therapy; Humans; Immunoassay; Interleukin-6; Ischemia; Ischemia - physiopathology; Ischemia - therapy; Kidney Diseases - diagnostic imaging; Kidney Diseases - physiopathology; Kidney Diseases - therapy; Kidneys; Liver; Liver Diseases - diagnostic imaging; Liver Diseases - physiopathology; Liver Diseases - therapy; Lung Diseases - diagnostic imaging; Lung Diseases - physiopathology; Lung Diseases - therapy; Lungs; Lymphadenopathy - diagnostic imaging; Lymphadenopathy - physiopathology; Lymphadenopathy - therapy; Male; Medical imaging; Methylprednisolone - therapeutic use; Multiorgan infiltration; Multiple Organ Failure - physiopathology; Multiple Organ Failure - therapy; Mutation; Nucleoside Transport Proteins - genetics; Paediatric intensive care unit; Patients; Pediatrics; Pulse Therapy, Drug; Respiration, Artificial; SARS-CoV-2; Severe acute respiratory syndrome coronavirus 2; Shock, Cardiogenic - physiopathology; Shock, Cardiogenic - therapy; Skin; Splenic Diseases - diagnostic imaging; Splenic Diseases - physiopathology; Splenic Diseases - therapy; Toes - blood supply; Tomography, X-Ray Computed; Treatment Outcome; Ventilators; Viral antibodies; CT-scan; Case report; H syndrome; Tocilizumab; Cardiogenic shock; Multiorgan infiltration; Paediatric intensive care unit; Digital ischemia; Interleukin-6

H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of HS is cutaneous hyperpigmentation located mainly in the inner...