| Autor: |
Rolf Zetterström, B. Engfeldt |
| Rok vydání: |
1954 |
| Předmět: |
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| Zdroj: |
The Journal of Pediatrics. 45:125-140 |
| ISSN: |
0022-3476 |
| DOI: |
10.1016/s0022-3476(54)80135-1 |
| Popis: |
Summary Renal and skeletal disease, clinically resembling severe rickets, was diagnosed in a 5-month-old girl. The girl was under observation until she died at the age of 10 months. In the blood serum there were hypercalcemia and low alkaline phosphatase activity. Along with the usual morphological methods the skeleton was also investigated using biophysical techniques. In the skeleton there was a generalizedinhibition of growth and considerably reduced intensity in the rebuilding processes. The mineralization of newly formed organic matrix was defective or completely absent. The compact bone showed most of the characteristics of that in newborn infants. In the kidneys, there was nephrocalcinosis with nephrocirrhosis. At autopsy the alkaline phosphatase activity was low both in the skeleton and in the kidneys. The connection between this diseaseand other, previously described syndromes with the same clinical features is discussed. The disease appears to be a well-delimited clinical and pathological entity which may be genetically determined and caused by a disturbed cellular function. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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