[Hypophosphatasia in an adult, with late clinical manifestations (author's transl)]. 1978

J B Paolaggi, and C Job, and M Durigon, and R Alterescu, and L Auquier

A case of hypophosphatasia with osteomalacia and subtrochanteric pseudo-fractures is described in a 53 years old woman. Bone biopsy showed an excess of osteoid. Alkaline phosphatase activities in sera were low. There was no excretion in the urine of abnormal quantities of phosphoetanolamine. But alkaline phosphatase activities were low in bone and intestine. Two sons were affected by biological hypophosphatasia without clinical features. These data support the diagnosis of minimal hypophosphatasia in an adult.

UI MeSH Term Description Entries
D007014 Hypophosphatasia A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed) Hypophosphatasias
D007422 Intestines The section of the alimentary canal from the STOMACH to the ANAL CANAL. It includes the LARGE INTESTINE and SMALL INTESTINE. Intestine
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010018 Osteomalacia Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis. Adult Rickets,Rickets, Adult
D001842 Bone and Bones A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX. Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
D005260 Female Females
D005598 Fractures, Spontaneous Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed) Fractures, Pathological,Fracture, Pathologic,Fracture, Pathological,Fractures, Pathologic,Pathological Fracture,Pathological Fractures,Fracture, Spontaneous,Pathologic Fracture,Pathologic Fractures,Spontaneous Fracture,Spontaneous Fractures
D006620 Hip Fractures Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). Femoral Trochlear Fractures,Intertrochanteric Fractures,Subtrochanteric Fractures,Trochanteric Fractures,Trochlear Fractures, Femur,Femoral Trochlear Fracture,Femur Trochlear Fracture,Femur Trochlear Fractures,Fracture, Femoral Trochlear,Fracture, Femur Trochlear,Fractures, Femoral Trochlear,Fractures, Femur Trochlear,Fractures, Hip,Fractures, Intertrochanteric,Fractures, Subtrochanteric,Fractures, Trochanteric,Trochlear Fracture, Femoral,Trochlear Fracture, Femur,Trochlear Fractures, Femoral
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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