Dent disease in Poland: what we have learned so far?

PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years). The most common features were tubular proteinuria (100%), hypercalciuria (87%), and nephrocalcinosis (56%). CKD (≤stage II) and growth deficiency were found in 45 and 22% of patients, respectively. Over time, a progression of CKD and persistence of growth impairment was noted. Subnephrotic and nephrotic proteinuria (20%) was found in most patients, but tubular proteinuria was assessed in only 67% of patients. In one family steroid-resistant nephrotic syndrome prompted a genetic testing, and reverse phenotyping. Five children (20%) underwent kidney biopsy, and two of them were treated with immunosuppressants. Hydrochlorothiazide and angiotensin-converting enzyme inhibitors were prescribed for a significant proportion of patients (42 and 37.5%, respectively), while supplemental therapy with phosphate, potassium, vitamin D (12.5% each), and alkali (4.2%) was insufficient, when compared to the percentages of patients requiring repletion. CONCLUSIONS: We found CLCN5 mutations in the vast majority of Polish patients with DD. Proteinuria was the most constant finding; however, tubular proteins were not assessed commonly, likely leading to delayed molecular diagnosis and misdiagnosis in some patients. More consideration should be given to optimize the therapy.

[New, successful treatment of urinary tract infection caused by Pseudomonas aeruginosa]. / Nowy, skuteczny model leczenia zakazenia ukladu moczowego spowodowanego Pseudomonas aeruginosa.

Urinary tract infection (UTI) is common in pediatric practice and an important cause of morbidity and mortality in children. Escherichia coli remains the predominant uropathogen (80%) isolated in acute community-acquired uncomplicated infections, followed by Staphylococcus saprophyticus (10% to 15%) and Pseudomonas aeruginosa (9%) The pathogens traditionally associated with UTI are changing many of their features, particularly because of antimicrobial resistance. Reinfections and relapses of urinary tract infections caused by PA are very frequent. The aim of the study was to evaluate the efficacy of combined clarithromycine and ceftazidime in terms of eradication of PA infection. We analyzed 20 out of 264 children with UTI where PA infection was confirmed with urine culture. Those children were treated for at least 14 days with the protocol used for PA infection in patients with mucoviscidosis. Short-term eradication was achieved in all patients. Long-term study revealed relapse in 25% of children, all with serious congenital malformations. 75% of children were treated with success. No side effects were observed. Conclusion. We conclude that an empirical combination treatment of clarithromycine and ceftazidime is appropriate and effective in children with UTI caused by PA. This therapy was clinically efficacious, well tolerated, and cost effective, and should prevent unnecessary development of antimicrobial resistance.