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Estimated glomerular filtration rate (eGFR) is one of the best-performing methods in evaluating kidney function. There are limited data regarding the estimated glomerular filtration rate in children and young adults with hemophilia. The aim of this study was to determine the difference between three commonly used estimated glomerular filtration rate equations in the pediatric population in a cohort of patients with hemophilia. Our prospective study included 36 pediatric patients with moderate or severe hemophilia. eGFR was calculated for each patient using the original creatinine-based “bedside Schwartz” equation, the cystatin C-based equation and the creatinine-cystatin C-based equation. The difference between the equations, calculated using the one-way repeated ANOVA test, was statistically significant (p, Procjena glomerularne filtracije jedna je od najboljih metoda ocjene bubrežne funkcije. Postoje oskudni podaci o procjeni glomerularne filtracije u djece i mladih odraslih oboljelih od hemofilije. Cilj našeg istraživanja je utvrditi razliku između tri često korištene metode za procjenu glomerularne filtracije u pedijatrijskoj populaciji u skupini pacijenata oboljelih od hemofilije. U naše prospektivno istraživanje uključili smo 36 djece s hemofilijom umjerenog ili teškog stupnja. Svakom pacijentu procijenjena je glomerularna filtracija koristeći jednostavnu, kreatinin baziranu jednadžbu po Schwartzu, cistatin C baziranu jednadžbu i kreatinin - cistatin C baziranu jednadžbu. Razlika između tri jednadžbe koristeći jednosmjerni ANOVA test bila je statistički značajna (p

Urolitijaza u djece, osobito u adolescenata, se sve češće dijagnosticira. Najčešće se radi o kacij oksalatnoj uroltijazi sa predominacijom metaboličkih uzroka u ranoj životnoj dobi djeteta, osobito hiperkalcurije i hiperoksalurije. U adolescentnoj dobi uzroci nastanka kamenaca sve više nalikuju onima u odraslih osoba uz sve veću ulogu hipocitraturije i sniženog izlučivanja glikozaminoglikana mokraćom. Cistinurija i urični kamenci su rjeđi uzrok nastanka kamenaca u urotraktu u dječjoj dobi. Osobita se pažnja pridaje ulozi pH urina i povišenom zasićenju mokraće. Odgovarajuća dijeta i unos tekućine mogu spriječiti povrat većine urolitijaze u djece. Terapiju citratima treba ograničiti na onu djecu u kojih se ne može postići kontrola zasićenja mokraće dijetom. Specifična terapija se primjenjuje u djece s metaboličkim/genetskim oboljenjima i za koje je u nekih uskoro moguća genska terapija., Urolithiasis in children, especially in adolescents, is increasingly being diagnosed. Calcium-oxalate urolithiasis is the most common cause of urolithiasis with the predominance of metabolic causes in early childhood, especially hypercalciuria and hyperoxaluria. In adolescence, the causes of stone formation are increasingly similar to those in adults with an increasing role of hypocitraturia and decreased urinary excretion of glycosaminoglycans. Cystinuria and urinary stones are less common causes of urinary tract stones in childhood. Particular attention is given to the role of urine pH and increased urine saturation. Proper diet and fluid intake can prevent the return of most urolithiasis in children. Citrate therapy should be limited to those children in whom control of urine saturation by diet cannot be achieved. Specific therapy is used in children with metabolic/genetic diseases and for some of whom gene therapy may soon be possible.

Indroduction: IgA vasculitis (IgAV) is the most common childhood-vasculitis in which more than 50% of children develop gastrointestinal (GI) symptoms. In 10-20% of patients serious complications such as intussusception, bowel perforation, and massive bleeding may occur. The most important complication is the development of nephritis with progression to chronic renal failure in about 3% of children. The aim of the research was to analyze clinical and biochemical parameters in patients with IgAV and GI manifestations. Methods: This retrospective study included children with IgAV reviewed in five Croatian University Centers for pediatric rheumatology in the period 2009 to 2019. Results: Out of 611 children with IgAV, 320 were males and 291 were females. The overall GI symptoms prevalence was 45.9% and the median (range) age at diagnosis was 6.42 (4.5- 8.83) years. Among patients with GI symptoms there were 1.44 times more males (N=166) than females (N=115), which was statistically significant (p=0.003). Patients with GI symptoms had less infections before the appearance of purpura (59.8% vs. 70.9%, p=0.005) and were found to be significantly more likely to have rash distributed on the trunk (61.9% vs. 48.5%, p=0.001), and upper extremities (35.2% vs. 24.7%, p=0.006), as well as generalized rash (38.8% vs. 28.3%, p=0.008). These patients also had significantly higher values of C-reactive protein, leukocyte count, erythrocytes and platelets, hemoglobin, hematocrit and D-dimer concentrations and lower levels of IgG and IgM. In our cohort 42 out of 281 children (14.9%) had the most severe GI manifestations (intussusception and/or massive GI bleeding) with significantly higher values of 24-hour urine protein levels and D-dimer concentrations and lower total serum protein, albumin, IgG, IgM and C3 levels in comparison with children whose GI manifestations were not severe. Predictors of severe GI involvement were: relapse of the disease, generalized rash, rash extended on upper extremities, rash extended to the face, recurrent rash and renal involvement, as well as lower values of prothrombin time, fibrinogen and IgM among the laboratory parameters. Patients with GI symptoms were 1.68 times more likely to develop nephritis, and this probability was 2.58 times higher if GI symptoms occurred before other symptoms. Other predictors of nephritis were: severe and moderate GI manifestations, recurrent rash, one or more relapses of IgAV, and older age. Conclusion: Older children with IgAV and severe GI manifestations in whom IgAV begun with GI symptoms had a higher risk of acute and chronic complications of the disease. SUPPORT: Croatian Science Foundation project IP- 2019-04-8822

The prevalence of generalized skin symptoms, as well as the most severe forms in childhood IgA vasculitis is much less than the classical findings. However, the more severe the skin symptoms are, the more severe the course of the disease is, and aggressive treatment will be needed.

Uvod: IgA vaskulitis (IgAV) najčešći je vaskulitis u djece. Iako se uglavnom radi o samoograničavajućoj bolesti, u više od 50% djece mogu se razviti gastrointestinalni (GI) simptomi, a u oko 10 do 20% djece moguća je pojava ozbiljnih komplikacija kao što su intususcepcija, perforacija crijeva ili opsežno krvarenje iz probavnog sustava. Ispitanici i metode: U ovo retrospektivno istraživanje uključili smo djecu s IgAV-om koja su se liječila u 5 tercijarnih ustanova za pedijatrijsku reumatologiju u Hrvatskoj u razdoblju od 2009. do 2019. godine. Razlike među kategorijskim varijablama ispitane su χ2 i Fisherovim egzaktnim testom, a među numeričkim Mann-Whitneyevim U testom. Rezultati: Od 611 djece s IgAV-om u njih 281 (45, 9%) bio je zahvaćen GI sustav. Među djecom s GI simptomima bilo je 1, 44 puta više dječaka (p = 0, 003), više ih je dolazilo iz mediteranske Hrvatske (38% u odnosu na 27%, p = 0, 007), imala su manje infekcija prije pojave purpure (59, 8% u odnosu na 70, 9%, p = 0, 005) i manje respiratornih infekcija (35, 6% u odnosu na 45, 2%, p < 0.001). U djece koja su imala GI simptome postojala je 1, 68 puta veća šansa za razvoj nefritisa, a ako je IgAV započeo s GI simptomima, tada je ta šansa bila čak 3, 55 puta veća. Nije bilo razlike u zahvaćenosti zglobova i središnjeg živčanog sustava. U djece s GI simptomima osip je bio značajno češće proširen po trupu (61, 9% u odnosu na 48, 5%, p = 0, 001) i gornjim ekstremitetima (35, 2% u odnosu na 24, 7%, p = 0, 006), a češće se pojavljivao generalizirani osip (38, 8% vs. 28, 3%, p = 0, 008). Ova je skupina djece imala više razine C-reaktivnog proteina, veći broj leukocita, eritrocita i trombocita, više koncentracije hemoglobina i D-dimera te niže koncentracije IgG i IgM. Najteže GI manifestacije imalo je 42 od 281 djece (14, 9%) i ona su imala značajno veću 24- satnu proteinuriju i povišene koncentracije D- dimera te niže koncentracije serumskih bjelančevina, albumina, IgG, IgM i komponente C3 komplementa u odnosu na djecu s lakšim GI manifestacijama. Zaključak: Pronašli smo skupinu djece s IgAV-om i GI simptomima koja su se razlikovala u svojim demografskim, kliničkim i biokemijskim obilježjima od djece bez GI simptoma. Ova skupina djece imala je statistički značajno veću šansu za razvoj nefritisa, a time i veći rizik za pojavu akutnih i kroničnih komplikacija IgAV-a. Potpora: Projekt Hrvatske zaklade za znanost, IP- 2019-04-8822

This is an educatonal case focusing on GN with persistently low C3 levels beyond six weeks.

Prikazan je spontani oporavak kongenitalnog nefrotskog sindroma kod novorođenčeta.

Djeca koja su redovito uzimala profilaksu uroinfekcija imala su i do 10 puta veći postotak izliječenja od CC a djeca koja su je neredovito uzimala dva puta veći postotak izliječenja od djece koja je uopće nisu uzimala (p=0.00). U djece koja nisu imala uroinfekcije tijekom uzimanja uroprofilakse izliječenje od CC je bilo najviše, za razliku od djece koja su imala opetovane uroinfekcije (p=0.00).

Analiza rezultata ovog istraživanja nije dosegla statističku značajnost oštećenja bubrega u promatranim skupinama. Stoga planiramo u daljnjem istraživanju uključiti i mlađe odrasle osobe s očekivanjem postizanja statistički značajnih rezultata. U tijeku je procjena oštećenja bubrega osjetljivijim dijagnostičkim metodama, te u tom slučaju očekujemo razliku u bubrežnoj funkciji.

U radu se prikazuju prvi rezultati genskog testiranja pedijatrijskih pacijenata s Alportovim sindromom i nefropatijom tankih glomerularnih balaznih membrana u Hrvatskoj.

INTRODUCTION AND AIMS: We present the project of genetical analysis of the patients with Alport's syndrome (AS) and Thin glomerular basement membrane disease (TGBMD). Croatian science foundation funded project , Genotype - phenotype correlation in Alport's syndrome and thin glomerular basement membrane disease is an attempt to contribute to better understanding of these diseases. METHODS: We analysed data from our hospital's kidney biopsy registry. We are also presenting, two female patients (mother and daughter) aged 48 and 23 presented with asymptomatic proteinuria and erythrocyturia. Ultrasound guided kidney biopsy was performed using 16 Gauge needle. Light, immunofluorescent and electron microscopy analysis was performed. Male patient, age 21, (son), presented with progressive chronic kidney disease and recieved kidney transplant. Clinical geneticist analysed family data. Blood samples were obtained from both females while male declined to participate in the study. DNA was isolated and next genome sequencing performed testing for mutations in collagen type 4 (COL4) chaines. RESULTS: Out of 1900 kidney biopsies in our hospital's registry we noticed 7% of prevalence of AS and TGBMD. Patients clinicaly presented with erythrocyturia and daily proteinuria between 0.5-1 grams and varying levels of eGFR. We present an example of family with AS. Older female has chronic kidney disease with eGFR (CKD-EPI formula) 40 ml/min/1.73m2 and younger female has normal eGFR with asymptomatic proteinuria and erythrocyturia. Pathohistologic analysis of kidney samples of two female patients revealed signs of AS on electron microscopy, while light microscopy revealed only secondary focal segmental glomerulosclerosis (FSGS). Immunohistochemical analysis showed α3 and α5 COL4 chaines glomerular staining pattern characteristic for X linked AS. Genome analysis found COL4 α5 stop codone mutation, c.2950C>T ; p.Gln984Ter on X chromosome. This is a known mutation in AS which in males phenotypically presents as more rapid progressive loss of kidney function while slower disease progression is usually present in females. CONCLUSIONS: AS causes chronic kidney disease but recently published data showed TGMD can lead to FSGS and end-stage renal disease (ESRD), usually in later age than in AS. , Genotype-phenotype correlation in Alport's syndrome and thin glomerular membrane disease“ funded by Croatian science foundation will include 400 patients with AS and TGMD and family members with possible expansion of project and inclusion of patients from other neighbouring countries. Project will determine prevalence and types of various COL4α chains mutations in Croatian patients with AS. Basic urin analysis in family members of patients with AS could lead to earlier diagnosis of kidney disease. This will improve risk stratification in individual family members and allow better health care quality.

Sve mutacije opisane u ovom istraživanju su blagog fenotipa po Mahidol thalassemia severity score indeksu i bez daljnje progresije bolesti. U ovoj skupini pacijenata nismo pronašli mutacije beta globinskog gena klinički izraženijeg fenotipa. Nužno je provesti sveobuhvatno genetičko istraživanje beta- talasemija u Republici Hrvatskoj kako bi se upotpunila populacijska studija beta globinskog gena.

The aim of study was to determine the risk of calcium oxatae urolithiasis in children from concentrations of calcum, oxalate, citrate, glycosaminoglycans in urine and their ratios, all standardized in respect to creatinine. Calcium/citrate ratio as well as oxalate/(citratexglycosaminoglycans) ratio proved to be usefull for diagnostic purposes in calcium oxaqlate stone fromers.

Introduction: Isolated microhematuria (IMH) is frequently encountered in pediatric practice. No definite conclusions have been reached about the natural history of patients with IMH. There is controversy too, whether besides other examinations there is need of performing renal biopsy in children with persistent IMH. The aim of the study was to evaluate the contribution of renal biopsy to the diagnosis of the diasease in IMH and prognosis of such patients. Material and methods: Renal biopsy was performed in 92 children with IMH (46 boys and 46 girls with mean age of 9.44 and 9.74 years respec- tively) in whom urological abnormalities, hypercalciuria, systemic dis- eases, coagulopathy or overt family history of renal disease were exclud- ed. The mean duration of IMH prior to biopsy was 2 years and 5 months. Biopsy speciments were examined by light (LM), immunofluorescent (IF) and electron microscopy (EM). After biopsy the patients were followed-up for 3 – 13 years. Results: Seventy- seven (83.6%) children had pathological histologic find- ing. The most common were EM changes consistent with Alport syndrome found in 27 (35.0%) cases, followed with IgA nephropathy in 18 (23.4%) cases and changes consistent with acute postinfectious glomerulonephritis in resolution in 15 (19.5%) cases. Diffuse thinning of GBM was found in 13 (16.9%) cases, membranoproliferativ e glomerulonephritis in 3 (3.9%) and fibrillary glomerulonephritis in 1 (1.3%) case. On follow-up, in 7 of 27 children with EM changes consistent with Alport syndrome appeared pro- teinuria and in 2 perceptive hearing i mpairment. Further surveillance is needed to confirm the significance of EM findings in others. Conclusions: In children with IMH of proven glomerular origin renal bioipsy is justified and specimen should always be analyzed by light, immunofluorescent and electron microscopy.

Urinary excretion of oxalate, citrate, glycosaminoglycans and the ratios oxalate/citrate, oxalate/glycosaminoglycans, oxalate/(citrate × glycosaminoglycans), and citrate/glycosaminoglycans were examined in 83 children with idiopathic urolithiasis. Only the variable oxalate/(citrate × glycosaminoglycans) mmol/mol creatinine was able to distinguish between children with urolithiasis and healthy children. ROC analysis showed with high specificity that the value of the ratio > 0.0782 is adequate for diagnostic purpose showing.

Analizirano je izlučivanje urinom oksalata, citrata i glikozaminoglikana u 83 djece s idiopatskom urolitijazom. Iz analize su isključene primarne hiperoksalurije i idiopatske hiperokslurije (HOGA 1) koje su uzrokovane mutacijama gena i enteričkom hiperoksalurijom. Kao varijable su uzete koncentracije oksalata, citrata i glikozaminoglikana te omjeri oksalati/citrati, oksalati/glikozaminglikani, oksalati/(citrati × glikozaminoglikani) i citrati/glikozaminoglikani. Od ispitanih varijabli jedino je omjer oksalati/(citrati × glikozaminoglikani) mmol/mol kreatinina razlikovao zdravu djecu od skupine djece s uirolitijazom. ROC analizom je utvrđeno da je vrijednost omjera > 0.0782 dijagnostički prihvatljiva za razlikovanje djece s urolitijazom od zdrave djece. Stoga se nalaz omjera oksalati/(citrati × glikozaminoglikani) iznad 0.0782 može se smatrati određujućim za djecu s urolitijazom.

Recent analysis of bacterial resistance to common chemotherapeutics and implications towards optimal antibiotics selections in urinary tract infections of Croatian children is presented.