FAMILIAL HYPOMAGNESEMIA - BIOCHEMICAL, HISTOLOGICAL AND HEREDITARY ASPECTS STUDIED IN 2 BROTHERS

被引:72
作者
STROMME, JH
NESBAKKE.R
NORMANN, T
SKJORTEN, F
SKYBERG, D
JOHANNES.B
机构
[1] Department of Clinical Chemistry, Rikshospitalet
[2] Sentrallaboratoriet, Rikshospitalet, Oslo
[3] Institute of General and Experimental Pathology, Rikshospitalet
[4] Department of Pathology, Ullevaal Hospital
[5] Department of Pediatrics, Rikshospitalet, University of Oslo, Oslo
[6] Porsgrunn Lutherske Sykehus, Porsgrunn
来源
ACTA PAEDIATRICA SCANDINAVICA | 1969年 / 58卷 / 05期
关键词
calcium; convulsions; heredity; hypocalcemia; hypomagnesemia; inborn error of metabolism; intestinal absorption; Magnesium; malabsorption; radioactive magnesium; tetani;
D O I
10.1111/j.1651-2227.1969.tb04743.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Two brothers are reported, who at the ages of two and three weeks respectively, demonstrated generalized tetanic convulsions. In both cases, hypocalcemia and hypophosphatemia were found. The serum magnesium of the elder brother was not determined, whereas the younger was found to have severe hypomag‐nesemia. Calcium administration had no effect on the condition of the elder one, who died at the age of 50 days. In the younger, magnesium alone led to a normalization of the clinical as well as the biochemical picture. On daily oral magnesium supplementation, the child is healthy and is developing normally. Data are presented which indicate that the hypomagnesemia is due to a selective defect in the absorption of this ion. The low serum calcium appears to be secondary to a magnesium deficiency. Morphological findings in autopsy and biopsy material are presented, demonstrating histological and electron microscopical changes most marked in the liver. On the basis of a familial occurrence of this disease, a hereditary genesis is considered likely. Copyright © 1969, Wiley Blackwell. All rights reserved
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页码:433 / &
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