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Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

✍ Scribed by F. Manz; K. Schärer; P. Janka; J. Lombeck


Publisher
Springer
Year
1978
Tongue
English
Weight
921 KB
Volume
128
Category
Article
ISSN
0340-6997

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✦ Synopsis


Polyuria, hyposthenuria, hypomagnesemia, hypercalciuria, advanced nephrocalcinosis, low citrate excretion and low glomerular filtration rates were observed in two female siblings who were followed over 10 years. Acid loading revealed incomplete distal tubular acidosis. Hypomagnesemia was due to renal magnesium wasting. It is suggested that the defect in tubular transport of magnesium is an important factor in the pathogenesis of this syndrome.


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✍ Takanobu Anai; Jiro Yamamoto; Ichiro Matsuda; Naoki Taniguchi; Takahito Kondo; B 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 374 KB

Two siblings with renal tubular acidosis (RTA) and nerve deafness were examined. It was found by ammonium chloride and bicarbonate loading tests that the 6-year-old brother had a hybrid type of RTA and his 4-year-old sister, a distal type of RTA. Enzyme activity and amount of enzyme protein of carbo