Rudaitis, Šarūnas

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.

Background: Recurrent bacterial meningitis in infants is an uncommon condition requiring a comprehensive approach to a variety of causes, including immunodeficiency, adjacent infections, or congenital structural abnormalities. This case highlights the diagnostic challenge of confirming the etiology of recurrent meningitis leading to difficulties in treatment decisions. Case Presentation Summary: A healthy, full term infant was first diagnosed with Escherichia coli meningitis at 2 months of age. Cefotaxime was administered, CSF sterilization was proven after 7 days and the baby was discharged after 21 days of treatment. At 4 months of age, he was readmitted due to fever, irritability, and 4-day history of diarrhea. A urinary tract infection and bacterial meningitis recurrencewere diagnosed, and treatment with ceftriaxone was initiated. E. coli was identified in the urine culture, while CSF tested positive for both E. coli and Enterococcus faecalis, so the treatment was switched to meropenem. The infant was tested for immunodeficiency and received immunoglobulin therapy due to reduced levels of CD19+. Despite treatment, the patient's condition worsened with vomiting, febrile fever, and hypotonia. Brain CT and MRI revealed only inflamed meninges and mild hydrocephalus. Repeated CSF was sterile but persistent lower glucose levels lead to the adjustment of treatment to ampicillin and cefotaxime. After short improvement, fever returned with a third episode of meningitis. Absence of CSF at L3-4 level finally led to spinal MRI revealing a dermal fistula from the S2 to the epidural space. The fistula was surgically removed, and the patient was discharged with follow-up, showing no further episodes of meningitis. Learning Points/Discussion: Anatomical defects should always be considered in cases of recurrent bacterial meningitis. Spinal MRI is essential to rule out structural causes, like dermal fistulas, especially when gram-negative pathogens are detected.

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.

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.

Knygoje pateikiama vaikų kvėpavimo sistemos ligų, alerginių, infekcinių, inkstų, virškinimo sistemos, širdies, kraujo, nervų, endokrininės sistemos ligų, vaikų skubios pagalbos, sutrikusios raidos, vaikų ir paauglių psichinių ligų, naujagimių ligų sutrikimų diagnostikos ir gydymo algoritmai bei integruotos sveikatos priežiūros principai.

Aims/Purpose: Pathogenic variants of the WT1 gene may cause several genetic conditions involving progressive renal function impairment. These rare conditions are not commonly seen in everyday practice, therefore we believe more awareness should be raised. In addition, this report will serve as an overview of our improving capabilities to diagnose and manage such patients. Methods: This is a case report of three pediatric patients who, during the period between 2002 and 2022, were treated in our centre due to chronic kidney disease related to the WT1 gene. Results: 1st case (10 months) presented with Wilms’ tumour, hypertension, and hypoalbuminemia. Kidney biopsy showed signs of focal segmental glomerulosclerosis (FSGS). The patient was female, karyotype 46,XX. Genetic analysis revealed a missense mutation in the WT1 gene, confirming Denys-Drash syndrome. The patient’s kidney function deteriorated and peritoneal dialysis was initiated. She was treated for sepsis and peritonitis several times in the following years. The patient passed away at the age of 9 years due to sepsis following kidney transplantation. 2nd case (1 year) presented with 46,XY sex differentiation disorder. Surgical removal of the ovotestes and vaginoplasty were performed. At the age of 8 years, she was hospitalised with end stage kidney disease. FSGS was discovered in the kidney biopsy. Peritoneal dialysis was performed until kidney transplantation. A frame shift mutation was discovered in the WT1 gene, with a clinical diagnosis of Frasier syndrome. With continued care, she has recently reached 18 years of age with a well-functioning transplant kidney. 3rd case (36 days) presented with generalised oedema, hypoalbuminemia, and anuria. Peritoneal dialysis was started. The patient’s karyotype is 46,XY with normal female genitalia and persistent Müllerian ducts. A pathogenic missense variant was detected in the WT1 gene, Denys-Drash syndrome was diagnosed. At the age of 3 months, bilateral nephrectomy was performed. The patient continues receiving peritoneal dialysis. Conclusion: WT1 nephropathy has led to end stage kidney disease in all three cases. Kidney transplantation appears to be the most preferable mode of treatment. Early clinical manifestation provides additional challenges in managing the condition.