ABSTRACT
Alkaptonuria is a rare autosomal recessive metabolic disorder that may present with multi-system involvement such as ochronotic arthropathy, renal, urethral and prostatic calculi, cardiac valvular lesions and pigmentation of the skin, sclera, cartilage and other connective tissues. An association of the disease with uveitis has never been reported. We report the first case of alkaptonuria with ochronotic arthropathy presenting with recurrent acute anterior uveitis as the initial manifestation. The possible common link with the HLA-B27 gene is discussed.
Subject(s)
Acute Disease , Alkaptonuria/complications , Antioxidants/therapeutic use , Ascorbic Acid/therapeutic use , Diagnosis, Differential , HLA-B27 Antigen/genetics , Humans , Male , Middle Aged , Mydriatics , Ochronosis/complications , Spondylarthropathies/complications , Uveitis, Anterior/etiologyABSTRACT
This case report describes a rare interaction between therapeutic doses of phenytoin and acenocoumarol resulting in both acute phenytoin toxicity and increased international normalized ratio (INR). Interactions between these drugs are due to the pharmacokinetics and the common metabolising pathway by hepatic cytochrome P450 isoenzyme-CYP2C9. Our patient was detected to be homozygous for CYP2C9*3 by PCR-RFLP analysis resulting in markedly decreased metabolism of both the drugs. Given that these two drugs are often given concomitantly in the medical out patient department, and that CYP2C9 polymorphisms are not uncommon, clinicians should be aware of this interaction and suspect this in patients with toxicity to these drugs.
Subject(s)
Acenocoumarol/adverse effects , Adult , Anticoagulants/adverse effects , Anticonvulsants/poisoning , Aryl Hydrocarbon Hydroxylases/genetics , Drug Interactions , Female , Humans , Mutation , Pharmacogenetics , Phenytoin/poisoning , Polymorphism, Genetic , Pregnancy , Pregnancy Complications/drug therapy , Pregnancy Complications, Hematologic/prevention & control , Seizures/drug therapySubject(s)
Adult , Anti-Bacterial Agents/therapeutic use , Female , Humans , Meningitis, Bacterial/drug therapy , Penicillin G/therapeutic use , Postpartum Period , Pregnancy , Prognosis , Puerperal Infection/drug therapy , Streptococcal Infections/drug therapy , Streptococcus agalactiae/isolation & purificationABSTRACT
OBJECTIVE: To compare cultures throat swab after physiotherapy with results of sputum culture in identification of lower airway pathogens in children with cystic fibrosis. METHODS: 387 samples of sputum cough swabs, throat swab and throat swab after physiotherapy were collected from 48 patients of cystic fibrosis and cultured for aerobic bacteria. The results of cultures of cough swabs, throat swab and throat swab after physiotherapy were compared with results of sputum culture. RESULTS: There was good concordance between culture results of sputum and other methods. Over all concordance was 70%, 81% and 92% with cough swab, throat swab and throat swab after physiotherapy. Sensitivity for isolation of Pseudomonas aeruginosa by throat swab, cough swab and throat swab after physiotherapy was 40%, 42% and 82% respectively. Specificity for isolation of Pseudomonas by throat swab, cough swab and throat swab after physiotherapy was 99%, 100% and 99% respectively. Sensitivity for isolation of Staphylococcus aureus by throat swab, cough swab and throat swab after physiotherapy was 57%, 50% and 100% respectively. Specificity for isolation of Staphylococcus by throat swab, cough swab and throat swab after physiotherapy was 99% for all these methods. CONCLUSION: It is concluded that throat swab after physiotherapy in a child with CF can be used reliably for identification of lower airway pathogens.