ABSTRACT
A girl with autosomal dominant hypophosphatemic rickets, presented with clinical, radiological and laboratory signs of rickets at the age of 11 months. She showed a good response to the treatment with low doses of oral phosphate and calcitriol. Surprisingly, she lost her renal phosphate wasting at the age of 8 years, indicating that the disturbed phosphate metabolism can be compensated by hormonal or other factors.
Subject(s)
Fibroblast Growth Factors/genetics , Genes, Dominant , Hypophosphatemia, Familial/genetics , Kidney/metabolism , Mutation , Phosphates/metabolism , Administration, Oral , Aging/metabolism , Calcitriol/administration & dosage , Calcitriol/therapeutic use , Calcium Channel Agonists/administration & dosage , Calcium Channel Agonists/therapeutic use , Child , Female , Fibroblast Growth Factor-23 , Humans , Hypophosphatemia, Familial/drug therapy , Pedigree , Phosphates/administration & dosage , Phosphates/therapeutic useABSTRACT
We treated a girl aged 3.5 years (15 kg) with ethanol intoxication, using peritoneal dialysis. The blood ethanol concentration was 6.4 g/l (640 mg/dl; 138.9 mmol/l). It was calculated that the child drank a total amount of 67.2 g of ethanol (4.5 g/kg). The spontaneous ethanol elimination rate before peritoneal dialysis was 0.27 g/l (5.86 mmol/l) per hour; during peritoneal dialysis we found an ethanol elimination rate of 0.32 g/l (6.94 mmol/l) per hour, which was lower than expected. In childhood the ethanol elimination rate with peritoneal dialysis is only slightly faster in comparison to the high spontaneous elimination rate. We conclude that treatment of severe ethanol intoxication should include mainly the maintenance of the vital functions and the meticulous control of blood sugar levels and acid-base disturbances, especially in children. Indications for dialysis are complications caused by ethanol and resistant to supportive therapy, such as seizures, metabolic disturbances, persistent hypoglycemia and the possibility of combined intoxication with other dialysable drugs.