Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.

BACKGROUND: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes. METHODS: We report four new patients from two families with the c.437G→A (p.Ser146Asn) mutation in COQ2 and the outcomes of two patients after long-term coenzyme Q10 treatment. RESULTS: Index cases from two families presented with vomiting, nephrotic range proteinuria, and diabetes in early infancy. These patients were diagnosed with coenzyme Q10 deficiency and died shortly after diagnosis. Siblings of the index cases later presented with neonatal diabetes and proteinuria and were diagnosed at the first day of life. Coenzyme Q10 treatment was started immediately. The siblings responded dramatically to coenzyme Q10 treatment with normalized glucose and proteinuria levels, but they developed refractory focal clonic seizures beginning at three months of life that progressed to encephalopathy. CONCLUSIONS: In our cohort with CoQ10 deficiency, neurological involvement did not improve with oral coenzyme Q10 treatment despite the initial recovery from the diabetes and nephrotic syndrome.

Severe hyperphosphatemia after oral laxative administration in a 7-year-old patient.

Sodium phosphate based laxatives are commonly used for constipation and pre-procedural bowel cleansing. Phosphate intoxication related with these preparations is well recognized. Herein, we present a case of severe hyperphosphatemia and seizure in a 7-year-old male patient after administration of an oral sodium phosphate based laxative. At the time of admission, serum phosphorus level was 25.6 mg/dl. Aggressive fluid therapy was started. Although serum phosphorus level decreased to 20.9 mg/dl eight hours after admission, hemodialysis was performed because of the preexisting renal disease and declined glomerular filtration rate. Serum phosphorus level and blood gas analysis returned to normal after hemodialysis and the patient was discharged on hospital day two. In conclusion, sodium phosphate based laxatives should be used carefully in patients with preexisting renal diseases. Intravenous hydration and correction of hypocalcemia are important components of treatment. Hemodialysis is indicated in patients with renal failure.

Antibiotic resistance of urinary tract pathogens and evaluation of empirical treatment in Turkish children with urinary tract infections.

The changing pattern of antimicrobial resistance in the causative microorganisms of urinary tract infection (UTI) in childhood is a growing problem. The aims of this study were to assess the resistance patterns of urinary isolates to commonly used antimicrobials and to evaluate the options for empirical treatment of UTI. A prospective cross-sectional analysis of bacteria isolated from children with UTI was performed between January 2003 and January 2004. Resistance to antibiotics was analysed in three age groups: Group I, < or =12 months; Group II, 13-60 months; and Group III, >60 months. A total of 165 urinary pathogens were isolated from 131 patients. Mean patient age was 63.7+/-49.8 months. The most common causative agent was Escherichia coli (87% of cases) followed by Klebsiella pneumoniae (10%). Resistance to ampicillin (74.2%) and co-trimoxazole (61.3%) was significant in all isolates. Nitrofurantoin was the most active agent against E. coli (2.2% resistant isolates), followed by amikacin (4.9%), ceftriaxone (7.5%) and ciprofloxacin (12%). None of the isolates from Group I patients were resistant to ciprofloxacin and a low resistance rate (7.1%) was noted for amikacin. In Group II patients, none of the isolates were resistant to amikacin, and ceftriaxone was the second most suitable antibiotic (resistance rate 2.2%). In Group III patients, the lowest resistance rate was against nitrofurantoin (2.7%). In conclusion, we observed that the use of ampicillin and co-trimoxazole as a single agent for empirical treatment of a suspected UTI would not cover the majority of urinary pathogens in our region. Whilst amikacin, with a negligible resistance rate, was suitable in all age groups, gentamicin might still be useful as an empirical treatment of UTI in children aged >1 year. Nitrofurantoin could be included as a reasonable alternative in the empirical treatment of lower UTI in older children.