LIBRO + ANEXOS ENDOCRINOLOGÍA PEDIÁTRICA

Libro Blanco de las ACES Pediátricas 2024 64 ❚ 40 8 Rickets, rickets-like conditions and soft tissue calcification • Approach to management and including management of specific conditions • Disorders of vitamin D and its metabolism o Acquired 26 o Genetic § Vitamin D hydroxylation-deficient rickets § Hereditary 1,25(OH)2 D-resistant rickets • Disorders of phosphate metabolism o X-linked hypophosphatemic rickets 27 o Other familial hypophosphatemic rickets o Renal tubular disorders associated with rickets o Tumour induced hypophosphatemia, part of McCune-Albright syndrome 28 • Conditions associated with soft tissue calcification: Generalised Arterial Calcification of Infancy 29 • Rickets & mineralisation defect: Hypophosphatasia 30 C C D C D C C C D D 9 Disorders of altered bone mass: differential diagnosis, investigation & management • Conditions associated with low bone mass: o Primary osteoporosis § Osteogenesis imperfecta 31, 32 § Other forms of primary osteoporosis 33 o Secondary osteoporosis § Steroid induced (Duchenne Muscular Dystrophy, management of malignancies) § Rheumatoid disorders and other inflammatory condition of bone • Conditions associated with high bone mass: o Osteopetrosis 34 § Osteoclast-rich § Osteoclast-poor C 10 Skeletal Dysplasia • Achondroplasia • Basic principles of investigation and management of rare dysplasias D 11 Bisphosphonate treatment • Preparations, mode of admininstration, doses, side effects and indications C 12 Novel therapies • e.g. X-linked hypophosphatemic rickets, Hypophosphatasia D