Archives: Conditions A-Z
Osteogenesis imperfecta
A heritable collagen disorder; bisphosphonates plus physiotherapy and orthopaedic care reduce fractures and improve function.
ავტორი:
Paget disease of bone
Disordered bone remodeling causing enlarged, weak bones and deformity.
ავტორი:
Paroxysmal nocturnal hemoglobinuria
An acquired clonal disorder of complement regulation; terminal complement and proximal C3 inhibitors control haemolysis.
ავტორი:
Phelan-McDermid syndrome
Deletion involving SHANK3 with developmental delay, absent speech and autism features.
ავტორი:
Pemphigus vulgaris
Autoimmune blistering disease with intraepidermal acantholysis affecting skin and mucosa.
ავტორი:
Pheochromocytoma and paraganglioma
Catecholamine-secreting tumors of adrenal medulla or extra-adrenal paraganglia.
ავტორი:
Prader-Willi syndrome
A genomic-imprinting disorder; growth hormone therapy and strict dietary management are central to care.
ავტორი:
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