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SOME BIOCHEMICAL ASPECTS OF LIGNAC‐FANCONI DISEASE
Author(s) -
BICKEL H.,
HICKMANS E. M.
Publication year - 1952
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1952.tb16980.x
Subject(s) - aminoaciduria , rickets , fanconi syndrome , urine , medicine , endocrinology , calcium , phosphorus , vitamin d and neurology , excretion , hypophosphatemic rickets , hypercalciuria , urinary calcium , kidney , chemistry , organic chemistry
SUMMARY1 Phosphorus and calcium balances in three patients of this series are analysed and compared with eight balances in the literature. Four of the eleven balances were carried out under vitamin D influence and were positive. Of the remaining seven, five phosphorus and two calcium balances were negative. This was due to phosphorus and calcium loss in the faeces; neither hyperphosphaturia nor hyper‐calciuria was detected. The balances in Lignac‐Fanconi disease were identical with a balance performed in a case of resistant rickets. Compared with renal rickets the hypocalcaemic, hyper‐or normo‐phos‐phataemic form of Lignac‐Fanconi disease shows certain differences. Though the excretion of phosphorus and calcium in the urine was decreased in both conditions, the hypocalcaemia i n Lignac‐Fanconi disease was more marked and the hyperphosphataemia mild or absent. It is suggested that the mechanism of these biochemical changes is different from that in renal rickets. 2 Chromatographic studies of urine and plasma in patients with Lignac‐Fanconi disease showed a moderate to strong increase of 10‐20 aminoacids in the urine, while in the plasma the aminoacid pattern was normal though the concentration of the aminoacids seemed to be above the normal range. Microbiological assay of twelve aminoacids by Dr. Schreier showed up to a twentyfold increase of various aminoacids in the urine and up to 100 per cent increase in the plasma. Estimations of glutamine and glutamic acid by Professor Krebs showed similar results. These findings do not indicate primarily a renal mechanism of the aminoaciduria, but suggest a prerenal disturbance of the aminoacid metabolism. 3 Electrolyte studies i n two patients under normal conditions and after acid feeding point to a complex disturbance of the acid‐base metabolism. Several factors seem to be involved, namely increase of organic acids in urine and probably in blood, insufficient ammonia production by the kidney, loss of the fixed bases sodium and potassium, and faulty reabsorption of bicarbonate. The relative importance of these factors is discussed. 4 No satisfactory explanation of the “glucose shock” in Lignac‐Fanconi disease has so far been offered. During three glucose tolerance tests we followed the potassium level in the plasma of our patient and of a healthy control. Glucose ingestion resulted in pronounced and prolonged hypopotassaemia in our patient, which was not due to potassium loss in the urine. In the control the response was similar but milder and briefer. We suggest that the “glucose shock” in Lignac‐Fanconi disease is a “hypopotassaemic shock.”