Severe kyphoscoliosis associated with osteomalacia

Motosuneya, Takao; Asazuma, Takashi; Yasuoka, Hiroki; Tsuji, Takashi; Fujikawa, Kyosuke

doi:10.1016/j.spinee.2006.01.008

Cited by 10 publications

(7 citation statements)

References 4 publications

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“…Both levo- and dextroscoliosis can be seen in Phospho1 −/− mice, but detailed examination of the vertebrae by µCT ruled out the presence of obvious morphologic vertebral abnormalities (hemivertebrae or fused vertebrae), indicating that the scoliosis, as well as the bowing of long bones, is likely caused by muscular forces acting on the malleable hypomineralized matrix of the Phospho1 −/− mice. (38,39)…”

Section: Discussionmentioning

confidence: 99%

Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: A unified model of the mechanisms of initiation of skeletal calcification

Yadav

Simão

Narisawa

et al. 2011

Journal of Bone and Mineral Research

212

303

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Endochondral ossification is a carefully orchestrated process mediated by promoters and inhibitors of mineralization. Phosphatases are implicated, but their identities and functions remain unclear. Alkaline phosphatase (TNAP) plays a crucial role promoting mineralization of the extracellular matrix by restricting the concentration of the calcification inhibitor inorganic pyrophosphate (PPi). Mutations in the TNAP gene cause hypophosphatasia, a heritable form of rickets and osteomalacia. Here we show that PHOSPHO1, a phosphatase with specificity for phosphoethanolamine and phosphocholine, plays a functional role in the initiation of calcification and that ablation of PHOSPHO1 and TNAP function prevents skeletal mineralization. Phospho1−/− mice display growth plate abnormalities, spontaneous fractures, bowed long bones, osteomalacia, and scoliosis in early life. Primary cultures of Phospho1−/− tibial growth plate chondrocytes and chondrocyte-derived matrix vesicles (MVs) show reduced mineralizing ability, and plasma samples from Phospho1−/− mice show reduced levels of TNAP and elevated plasma PPi concentrations. However, transgenic overexpression of TNAP does not correct the bone phenotype in Phospho1−/− mice despite normalization of their plasma PPi levels. In contrast, double ablation of PHOSPHO1 and TNAP function leads to the complete absence of skeletal mineralization and perinatal lethality. We conclude that PHOSPHO1 has a nonredundant functional role during endochondral ossification, and based on these data and a review of the current literature, we propose an inclusive model of skeletal calcification that involves intravesicular PHOSPHO1 function and Pi influx into MVs in the initiation of mineralization and the functions of TNAP, nucleotide pyrophosphatase phosphodiesterase-1, and collagen in the extravesicular progression of mineralization. © 2011 American Society for Bone and Mineral Research.

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Section: Discussionmentioning

confidence: 99%

Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: A unified model of the mechanisms of initiation of skeletal calcification

Yadav

Simão

Narisawa

et al. 2011

Journal of Bone and Mineral Research

212

303

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“…Therefore, we were unable to determine whether the main cause of the hypoxemia was the thoracic deformity. Although vitamin D and calcium supplementation inhibits the progression of deformities caused by osteomalacia, spinal surgery using spinal instrumentation is occasionally performed in such cases and has been shown to improve the symptoms of severe kyphoscoliosis and dyspnea (18). Hence, surgical treatment may provide some relief for the present patient.…”

Section: Discussionmentioning

confidence: 99%

Osteomalacia, Severe Thoracic Deformities and Respiratory Failure in a Young Woman with Anorexia Nervosa

2015

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The recent trends in avoiding sunbathing and eating fewer fish products have resulted in a high prevalence of vitamin D deficiency in the general Japanese population. We herein report the case of a young woman with enduring anorexia nervosa (AN) who suffered from osteomalacia, thoracic deformities and respiratory failure. Her vitamin D deficiency had been overlooked for years. Although the serum 25-hyroxyvitamin D [25(OH)D] level is a marker of vitamin D stores, it is not routinely examined because the cost is not covered by the national health insurance program. However, measuring the serum 25(OH)D levels in AN patients with hypocalcemia is recommended to prevent osteomalacia and osteoporosis.

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“…Treatment should focus on reversing the underlying condition and then correcting vitamin D and other electrolyte deficiencies. If vitamin D deficiency is the underlying cause, treatment through replacement therapy can lead to a significant improvement in strength and relief of bone tenderness within weeks [41]. Serum and urinary calcium levels should be monitored initially after 1 and 3 months and then every 6 to 12 months until 24-hour urinary calcium excretion is normal.…”

Section: Osteomalaciamentioning

confidence: 99%

Bone Deformity due to Rickets and Osteomalacia in Children and Adolescents

Alqahtani

Alshehri

Ahmed³

et al. 2021

JPRI

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Rickets is a worldwide bone disease that is associated with disorders of calcium and phosphate homeostasis and can lead to short stature and joint deformities. Osteomalacia is a major metabolic bone disease that results from a chronic and severe deficiency of vitamin D or phosphate from any cause after growth has stopped. A deficiency of vitamin D or phosphate leads to defective bone mineralization and generalized or localized vague bone pain in various parts of the skeleton and / or proximal muscle weakness. Rickets and osteomalacia are two different clinical diseases with impaired bone mineralization. Rickets occurs throughout the growing skeleton in infants and children, while osteomalacia occurs in adults after fusion of the growth plates. Rickets and osteomalacia are increasingly common in Saudi Arabia, with vitamin D deficiency being the most common etiological cause. Early skeletal deformities can occur in infants, such as soft, thin skull bones, a condition known as craniotabes. In adults, as a result of demineralization, the bones become less rigid (soft bone) with pathological fractures. The diagnosis of both diseases is based on the medical history and physical examination, radiological characteristics, and biochemical tests. Management depends on the underlying etiology.

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Severe kyphoscoliosis associated with osteomalacia

Cited by 10 publications

References 4 publications

Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: A unified model of the mechanisms of initiation of skeletal calcification

Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: A unified model of the mechanisms of initiation of skeletal calcification

Osteomalacia, Severe Thoracic Deformities and Respiratory Failure in a Young Woman with Anorexia Nervosa

Bone Deformity due to Rickets and Osteomalacia in Children and Adolescents

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