Diagnostic and therapeutic considerations on inherited platelet disorders in neonates and children.
Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological characteristics of platelets in the paediatric population is mandatory. Apart from thrombocytopenia which is quite common in neonates and children the present overview is aimed to focus on inherited platelet function disorders. Furthermore, knowledge on platelet maturation and reference values according to age are given, and a diagnostic strategy specifically adapted to a pediatric population is presented on the bases of plasmatic and molecular laboratory methodologies. Finally, therapeutic approaches are briefly summarized (antifibrinolytic agents, Desmopressin, HLA-matched platelets, recombinant factor VIIa).
Schlegel
N
N
Service d'Hématologie Biologique, Hôpital Robert Debré, Paris, France.
Bardet
V
V
Kenet
G
G
Muntean
W
W
Zieger
B
B
Nowak-Göttl
U
U
D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D001791:Blood Platelet Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002648:Child; D004252:DNA Mutational Analysis; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D003937:Diagnosis, Differential; D015942:Factor VIIa / Q000627:therapeutic use; D006474:Hemorrhagic Disorders / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020409:Molecular Motor Proteins / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D010314:Partial Thromboplastin Time; D010976:Platelet Count; D010979:Platelet Function Tests; D017713:Platelet Transfusion; D011994:Recombinant Proteins / Q000627:therapeutic use; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014841:von Willebrand Factor / Q000378:metabolism
D000933:Antifibrinolytic Agents; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D011994:Recombinant Proteins; D014841:von Willebrand Factor; C103587:recombinant FVIIa; D015942:Factor VIIa; D018995:Myosin Heavy Chains; D003894:Deamino Arginine Vasopressin