Masalskienė, Jūratė

Naktinė enurezė – tai vyresnių nei 5 metų vaikų nevalingas šlapinimasis miegant nakties metu. Naujausi tyrimai atskleidžia, kad šis sutrikimas dažnai yra susijęs su nepakankama vazopresino sekrecija, padidėjusiu šlapimo pūslės raumenų aktyvumu ar sutrikusiu pabudimo refleksu. Be to, stebima sąsaja su obstrukcine miego apnėja bei neuropsichiatriniais sutrikimais, tokiais kaip dėmesio stokos ir hiperaktyvumo sutrikimas (ADHD). Efektyviausi gydymo būdai - enurezės žadintuvas ir desmopresinas, o gydymo pasirinkimas priklauso nuo individualių paciento savybių.

Maturity-Onset Diabetes of the Young (MODY) yra reta monogeninė cukrinio diabeto forma, kurią sukelia autosominiu dominantiniu būdu paveldimos genų mutacijos, sutrikdančios kasos β-ląstelių funkciją. MODY sudaro apie 1-2 proc. visų diabeto atvejų ir yra diagnozuojamas jauniems pacientams, dažniausiai iki 25-30 metų amžiaus. Pagrindiniai MODY sukeliantys genai yra HNF1A, HNF4A, HNF1B ir GCK, iš kurių HNF1B išsiskiria tuo, kad be diabeto dažnai būna ir kitų organą, ypač inkstų vystymosi patologijų. Šiame pristatyme pateikiamas šeiminis diabeto atvejis, kai bendradarbiaujant vaikų nefrologams, vaikų endokrinologams ir gydytojams genetikams diagnozuota HNF1B mutacija. Šis atvejis įrodo genetinių tyrimų svarbą ankstyvai MODY diagnostikai, siekiant individualizuotos medicinos pritaikymo klinikinėje praktikoje.

Background. Percutaneous kidney biopsy remains a gold standard diagnostic tool in many kidney diseases, therefore kidney biopsy registry provides important epidemiological data. This research is a continuation of a previous review that analysed kidney biopsies in Lithuania from 1994 to 2012. Objectives. The aim of this study was to assess the trends in the incidence and changes in kidney biopsy results over time in Lithuania. Methods. All Lithuanian kidney biopsies were analysed in the National Center of Pathology. All the native and transplanted kidney biopsy data were reviewed from the period from 2013 to 2022. [...].

Vaikai ir jaunuoliai sudaro penktadalį Lietuvos populiacijos ir 100 procentų Lietuvos ateities. Jie - būsimoji mūsų šalies darbo jėga ir ateinančių kartų tėvai. Jų sveikata bus svarbus veiksnys, lemiantis šalies klestėjimą ir gyventojų ilgaamžiškumą. Šalys, kurios investuoja į vaikų sveikatą, gauna įspūdingą ekonominį atlygį, nes kiekvienas vaiko sveikatos labui išleistas euras per gyvenimą grįžta dešimteriopa nauda visuomenei. Lietuvoje vaikų sveikata tapo prioritetinė tik politiniuose dokumentuose. Realiame gyvenime valstybės rūpestį vaikų sveikata dažnai užgožia politinės intrigos ir asmeninės ambicijos, o labiausiai kvalifikuotas šios srities specialistas - vaikų ligų gydytojas, išstumiamas iš pirminės vaikų sveikatos priežiūros. Norėdami padėti visiems gydytojams, kurie savo praktikoje susiduria su vaikų sveikatos priežiūra, vedantieji Lietuvos vaikų ligų specialistai parengė trumpus dažniausių vaikų susirgimų ir būklių diagnostikos ir gydymo algoritmus. Tikimės, kad jie padės šeimos gydytojams, skubios pagalbos gydytojams ir pirminėje sveikatos priežiūros grandyje dirbantiems vaikų ligų gydytojams greičiau ir efektyviau įtarti, diagnozuoti ir pradėti gydyti įvairius vaikų susirgimus. Taip pat gydytojams bus lengviau nuspręsti, kur siųsti pacientą, įtariant sudėtingesnę patologiją; su kokiais specialistais ir kokiuose centruose konsultuotis dėl tolimesnio paciento ištyrimo bei ilgalaikio gydymo ir priežiūros. Šia knyga vaikų ligų gydytojai siekia prisidėti prie vaikų sveikatos priežiūros kokybės bei efektyvių paslaugų prieinamumo gerinimo mūsų šalyje ir padėti užtikrinti Vaikų teisių konvencijoje deklaruojamą vaiko teisę į geriausią įmanomą sveikatos priežiūrą.

Introduction: HNF1B (Hepatocyte Nuclear Factor 1 Beta) is an important transcription factor for the development and functionality of various organs, notably the kidneys and pancreas. Mutations in HNF1B are associated with various clinical phenotypes, including urogenital tract anomalies, monogenic diabetes (MD), abnormal liver function. Diabetes caused by HNF1B defect is very rare, and accounts only <5% of all MD cases. Objectives: Present a family with multiple diabetes cases and kidney anomalies. Methods: Results: We present two siblings, who were followed by pediatric nephrologist because of developmental kidney disease diagnosed antenatally, with no specific treatment. Nevertheless, both children had normal renal function, they were diagnosed with hypomagnesemia and hyperuricemia. In teenage years they were referred to a pediatric endocrinologist after heterozygous variant was found in the HNF1B gene (NM_000458.4:c.[701dupA];[701=]), inducing a frameshift mutation (NP_000449.1:p.[(Asn234fs)];[(Asn234=)]). Glucose profile, C-peptide and insulin of both children were within normal ranges, however, HbA1c had tendency to rise during the follow-up period for 6 months. Analysis of the pedigree showed that the father had diabetes requiring insulin therapy diagnosed from young age, his genetic testingi s still ongoing, his aunt was diagnosed with duplex kidneys. Moreover, both maternal grandparents had diabetes of unknown origin and kidney pathologies. There were more distant relatives from both parental sides with kidney problems and diabetes of unknown origin. Conclusions: The presented case highlights the complexity of HNF1B defects. The varying symptoms observed within the family, such as renal and extra-renal pathologies, confirm a complex genetic landscape. In summary, this case proved the crucial role of genetic testing in cases of congenital anomalies (especially kidney cysts) associated with features as impaired renal transport of electrolytes and/or other substances, and various extra-renal features, as diabetes.

Aim: To evaluate the diferences between E. Coli and NonE. coli-induced paediatric acute pyelonephritis (APN) by analysing age groups and clinical fndings. Methods:The research method is a retrospective study. Medical history data was collected of children with APN treated at LUHS Kaunas Clinics Department of Children diseases in 2020-01-01 – 2021-12-31 (n=270). The subjects were divided into four age groups: 28 days to 6 months, 7 months to 1 year, 2 years to 5 years, and 6 years to 17 years. Signifcant bacterial growth in urine was detected at > 105 colony-forming units (CFU)/ml in a mid-portion urine culture and > 104 CFU/ml in a bladder catheterization culture. Statistical analysis was performed using the “IBM SPSS Statistics” program. The χ2 criterion was applied. The results were considered statistically signifcant if p < 0.05. Results: After analysing the results of 266 urine cultures, signifcant bacterial growth was observed in 204 (76.7 %) cultures. E. coli was the cause of 170 (83.3 %) cases of APN. E. faecalis was identifed as the second most common cause of APN. APN caused by agents other than E. coli occurred more frequently in children under 6 months of age, compared to other age groups (p=0.01). Additionally, non-E. coli-induced APN was statistically more prevalent in boys (20, 58.8 %), than in girls (14, 41.2 %) (p<0.001), and in cases lacking leukocyturia (p=0.02). All patients with non-E. coli representatives such as E. faecium and S. agalactiae, in the urine culture were diagnosed with hydronephrosis by ultrasound examination (p=0.03). It was found that in cases where causative agent was not E. coli, more changes were observed in renal ultrasound examination, although the results were not statistically signifcant. Conclusion: Non-E. Coli-induced APN was more frequently observed in younger patients and those lacking leukocyturia. It was found that agents other than E. coli are associated with changes in renal ultrasound, but a statistically signifcant result was not achieved.

Aim: To evaluate the etiologic agents of acute pyelonephritis, their sensitivity to antibacterial treatment, and to assess changes in E. coli sensitivity to antibiotics. Methods: This retrospective study involved collecting medical history data from children diagnosed with acute pyelonephritis and treated at the LUHS Kaunas Clinics Department of Children's Diseases in 2020–2021 (n=270). The collected data were compared with those from 2010 – 2011, as published in the study by Atkočiūnas and coauthors titled “Acute pyelonephritis in children: etiology and antibiotic susceptibility”. Statistical analysis was conducted using the “IBM SPSS Statistics” program, employing the χ2 criterion, Mann-Whitney test, and Score test. Results were deemed statistically signifcant if p < 0.05. Results: In 2020–2021, 270 patients were diagnosed with acute pyelonephritis at LUHS Kaunas Clinics Department of Children diseases. Urine cultures were collected from 266 subjects, with signifcant positive results in 204 cases. Among these, E. coli was detected in 83.3 % and E. faecalis in 6.9 % of cases. The sensitivity of E. coli to antibiotics varied: ampicillin (50.3 %), cefuroxime (95.2 %), ciprofoxacin (94.6 %), gentamicin (95.8 %), nitrofurantoin (98.2 %), trimethoprim (79.6 %). E. faecalis showed 100 % sensitivity to ampicillin and nitrofurantoin. Additionally, in 2020–2021, E. faecalis was signifcantly more prevalent than in 2010–2011 (p < 0.001). In 2020–2021, the sensitivity of E. coli to cefuroxime in urine cultures signifcantly decreased compared to 2010–2011 (p < 0.001). Conclusion: Most cases of acute pyelonephritis were caused by E. coli, which exhibited high sensitivity to nitrofurantoin, gentamicin, and cefuroxime. Over the decade, the incidence of acute pyelonephritis caused by E. faecalis increased, and the sensitivity of E. coli to cefuroxime decreased.

We present a case of Denys-Drash syndrome complicated by cerebral atrophy and severe neurological deficit, not traditionally associated with the syndrome. Patient presented as a female infant, born at 37 weeks gestation. Immediately after birth a low amount of urine was noted, as well as a reduced muscle tone. Neurosonography revealed slight hydrocephalus with no clinical signs of compression. She was discharged home, and presented at our tertiary centre at one month of age with severe generalised edema, hypertension, and anuria. Neurosonography was normal at this time. Peritoneal dialysis was initiated. Karyotype testing showed 46, XY. An oncogene panel revealed a pathogenic heterozygous variant of WT1 (NM_024426.6(WT1):c. [1316G>A];[1316=]), confirming Denys-Drash syndrome. Abdominal and pelvic MRI showed no signs of nephroblastoma, and no gonadal tissue was identified. At two months of age, due to anuric ESRD and risk of malignancy, a double nephrectomy was performed. Nephrogenic foci were found in the histopathological study. Poor wound healing was noted, resulting in hernia at the incision site. In the following weeks the patient was increasingly irritable, had had worsening dysphagia. At 3 months focal seizures started to occur. Neurosonography and MRI showed severe cerebral atrophy, showing radiological signs of hypoglycaemic origin, however no hypoglycaemia episodes were registered. Full exome sequencing and metabolic testing revealed no additional inherited abnormalities. At 6 months of age, due to progressive swallowing dificulties a gastrostomy was placed, again showing poor postoperative wound healing, which resulted in peritonitis one week after surgery. The healing process took 1 month, during which time parenteral feeding was utilised. At 18 months of age the patient remains seizure-free with minimal doses of levetiracetam and phenobarbital, however MRI shows progressive cerebral atrophy, including atrophy of the optic nerves, resulting in blindness. Psychomotor development remains severely delayed. The cerebral atrophy and neurological defcit were initially attributed to post-nephrectomy hypotension, however the patient’s condition continued to deteriorate later in life with blood pressure well under control. Also, the patient did show some signs of neurological defcit (low muscle tone, dysphagia) before the nephrectomy was performed. The exact cause of the deficit remains unexplained at this time.

Vaikų nefrologijos sektorius įkurtas 1991 m. Kauno medicinos akademijoje, Vaikų ligų katedrą reorganizavus į Vaikų ligų kliniką. [...].

Autosomal dominant polycystic kidney disease (ADPKD) is rare but one of the most common inherited kidney diseases. Normal kidney function is maintained until adulthood in most patients. About 7 in 10 patients with ADPKD develop kidney failure in the latter half of their fifth decade of life. Wilms' tumor, or nephroblastoma, is the most common malignant tumor stemming from kidney cells in the pediatric age group. This type of tumor is the most frequently occurring kidney malignancy in children between the ages of 0 and 5 years. The exact cause of Wilms' tumor is unknown, though about 10% of cases have a genetic predisposition. Wilms' tumor is one of the most successfully treated childhood oncological diseases. Overall, the 5-year survival rates were approximately 90% in both the National Wilms Tumor Study (NWTS) and Paediatric Oncology SIOP studies, showing similar results.