ABSTRACT
Early death in Schimke immuno-osseous dysplasia often results from renal failure and/or cell-mediated immunodeficiency. Kidney transplants have improved renal function, but effective therapy for the immunodeficiency has not yet been reported. We describe markedly improved marrow function 2 years after bone marrow transplantation in a boy with Schimke immunoosseous dysplasia.
Subject(s)
Bone Marrow Transplantation , Osteochondrodysplasias/genetics , Osteochondrodysplasias/therapy , Antigens, CD/blood , Child , Child, Preschool , Graft vs Host Disease/prevention & control , Humans , Immunosuppressive Agents/therapeutic use , Infant, Newborn , Kidney Transplantation , Lymphopenia/complications , Lymphopenia/diagnosis , Male , Osteochondrodysplasias/complications , Pedigree , Renal Insufficiency/complications , Renal Insufficiency/surgery , Tacrolimus/therapeutic useABSTRACT
Seven newborns were treated with recombinant tissue plasminogen activator for arterial thromboses. Complete lysis occurred in four of seven and partial in two of seven patients. Serious bleeding complications were observed in two of seven patients. This and published experience suggest that successful lysis with recombinant tissue plasminogen activator occurs in most patients and that hemorrhagic complications are unusual but are not.
Subject(s)
Plasminogen Activators/therapeutic use , Thrombosis/drug therapy , Tissue Plasminogen Activator/therapeutic use , Arteries , Humans , Infant , Infant, Newborn , Plasminogen Activators/adverse effects , Recombinant Proteins , Retrospective Studies , Risk Factors , Tissue Plasminogen Activator/adverse effectsABSTRACT
We studied three pediatric patients with protein-losing enteropathy in conjunction with univentricular hearts and right atrial to pulmonary artery anastomosis (Fontan operation) before and during heparin therapy. Each patient showed dramatic improvements in symptoms, marked elevations in serum albumin levels, and quantitative reversal of enteric protein loss within a few weeks of beginning therapy. These findings suggest that heparin may be an important treatment for this poorly understood condition.
Subject(s)
Double Outlet Right Ventricle/surgery , Fontan Procedure , Heart Defects, Congenital/surgery , Heparin/therapeutic use , Postoperative Complications/drug therapy , Protein-Losing Enteropathies/drug therapy , Adolescent , Adult , Child , Humans , Male , Protein-Losing Enteropathies/etiology , Serum Albumin/analysis , Time FactorsABSTRACT
We report a case of neonatal purpura fulminans associated with activated protein C resistance. Analysis of DNA demonstrated heterozygosity for the factor V R506Q mutation. The neonate, at 8 hours of age, had progressive purpuric skin lesions and later had evidence of microvascular, hemorrhagic thrombosis in the brain. The baby was treated with fresh frozen plasma infusions and had complete resolution of the skin lesions and no apparent long-term complications. We suggest that activated protein C resistance testing be included in the initial evaluation of neonatal purpura fulminans.