Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this report we present the history of a patient treated with continuous ambulatory peritoneal dialysis (CAPD) in whom episodes of hypotonia can be related to the administration of amikacin, an antibiotic from the aminoglycosides group. The 68-year-old female patient was admitted for initiation of renal replacement therapy with CAPD. Her renal failure was probably attributable to hypertension. Three days after catheter implantation, the patient reported dysuric symptoms, and a urine culture showed significant growth of Escherichia coli. Amikacin 250 mg and cefazolin 1.0 g were administered intravenously once daily in accordance with the antibiogram. On the third day of antibiotic administration, the patient fainted, showing an arterial blood pressure of 90/60 mmHg. On the subsequent 2 days, decreases of postural arterial blood pressure to between 90/60 mmHg and 80/50 mmHg were reported two or three times daily. The patient was treated with antibiotics for the next 6 days and felt very bad the entire time, with an arterial blood pressure of 80/50 mmHg. The patient's condition improved 2 days after discontinuation of treatment with antibiotics, and episodes of hypotonia stopped. The decrease in the arterial blood pressure observed in our patient during intravenous administration of amikacin can, with a high probability, be related to the calcimimetic activity of this aminoglycoside and the resulting inhibition of parathyroid secretion.
Adv Perit Dial 2006
PMID:Hypotonia during amikacin administration in a patient treated with continuous ambulatory peritoneal dialysis. 1698 43

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism presenting with multi-system organ involvement due to defective glycosylation of glycoproteins. We report here a case of microcephaly, hypotonia, seizure disorder and severe developmental delay since infancy in whom screening for CDG with transferring isoelectric focussing (TIEF) revealed a type I pattern. Following investigation, the specific defect in glycosylation remains to be identified; hence, a diagnosis of CDG Ix (type unknown) was made. At the age of 15-months the patient developed nephrotic syndrome and renal biopsy indicated a histopathological diagnosis of diffuse mesangial sclerosis on histopathology. Since cases of CDG Ix may often develop hypoalbuminaemia secondary to malabsorption or liver disease, this case highlights the need for additional regular monitoring for glomerular proteinuria, and indicates that a diagnosis of nephrotic syndrome should be considered in all types of CDG. Furthermore, we propose that early treatment with anti-proteinuric agents may be necessary to limit proteinuria and slow disease progression.
Nephrol Dial Transplant 2009 Aug
PMID:Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. 1947 79