Naujokaitis, Antanas

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.

Aims/Purpose: To determine the cause and progression of chronic kidney disease (CKD) among children diagnosed with cystic kidney diseases in our outpatient clinic. Methods: A retrospective cohort study was conducted, analyzing the registration data of outpatient clinic between the years 2011 and 2021. Inclusion criteria were children consulted by a pediatric nephrologist and diagnosed with a cystic kidney disease. We analyzed the included patients’ medical data, determining the diagnosis, age at diagnosis, presence and progression of CKD at diagnosis and after 1, 5, and 10 years. Results: A total of 139 children were consulted for cystic kidney diseases during the study period. 75 children were diagnosed with nonspecific cystic kidney disease or uncomplicated single cysts. No patients in this group developed CKD during the study period. 31 children were diagnosed with a multicystic dysplastic kidney (MDK), 14 (45.2%) were boys. 14 (45.2%) were diagnosed under 12 months of age, 9 (29%) at an age of 1-9 years and 8 (25.8%) at an age of 10-17 years. None had CKD at diagnosis, 1 patient (3.2%) developed stage 2 CKD within 5 years after diagnosis with no further progression during the study period. 24 children were diagnosed with autosomal dominant polycystic kidney disease. 10 (41.7%) were boys, 7 (29.3%) were diagnosed under 12 months of age, 8 (33.3%) at an age of 1-9 years and 9 (37.5%) at an age of 10-17 years. None developed CKD. 9 children had autosomal recessive polycystic kidney disease (ARPKD), all diagnosed in infancy. 7 (77.8%) were boys. At diagnosis, 2 (22.2%) had CKD, stages 3 and 4, the latter patient developed stage 5 within 10 years. One patient with no CKD at diagnosis developed stage 5 within 1 year. At 5 years from diagnosis, one patient had newly developed CKD stage 2 and one CKD stage 3. 4 patients did not develop CKD during the study period, most likely due to insufficient data (single visits without long-term monitoring). Conclusion: Most cystic kidney diseases in children are self-limiting and do not result in CKD. Only 3.2% of children with MDK had a reduction in glomerular filtration rate, confirming the unilateral presentation of the disease and good compensation in children with a single functioning kidney. Although rare, ARPKD represents most of the CKD burden in children with cystic kidney diseases.

Aims/Purpose: To analyse the frequency of clinical presentations and the need for renal replacement therapy (RRT) in children with the typical hemolytic uremic syndrome (tHUS) during the hospitalization and 6 months after the discharge. Methods: 26 case histories of children with clinical diagnosis of tHUS who were treated in LSMU Hospital Kauno klinikos between 2007-2022 were analyzed in this retrospective study. Data of sex, age, hospitalisation period, RRT, mortality and clinical presentations of the patients at the time of arrival, discharge and 6 months after the discharge were evaluated. Results: 26 patients formed the study group: n = 16 (61.5%) boys and 10 (38.5%) girls. The median age at the time of hospitalization was 22 (7-90) months. Median hospitalization period was 14.5 (4-66) days. 61.5% (n = 16) of the patients arrived for the follow-up visit 6 months after the discharge. 61.5% (n = 16) of the children developed arterial hypertension during the acute period of the disease, which remained in 62.5% (n = 10) from them at the time of discharge and in 37.5% (n = 6) 6 months after. 23.1% (n = 6) of the patients experienced temporal disturbances of consciousness during the hospitalization. Although proteinuria was found in all the patients at the time of arrival (median proteinuria 3 (0.5-6.0) g/l), in half of them (50%, n = 13) it disappeared during hospitalisation. Proteinuria remained in 37.5% (n = 6) of those who arrived for the follow-up visit. All the patients presented with hematuria (38.5% with macrohematuria) which remained in most of these cases (46.2%, n = 12) at the discharge. At the time of arrival, kidney dysfunction was found in 76.9% (n = 20) patients (median creatinine level of 196.5 (23-619) μmol/l and urea level of 26.85 (2.8-49.6) mmol/l). 26.9% (n = 7) of the children developed anuria. RRT was applied in 50% (n = 10) of the children with a median duration of 12 (4-48) days. Hemodialysis was a primary choice in most (80%, n = 8) of these patients. Remaining kidney function impairment at discharge was observed in 42.3% (n = 11) but only in 6.3% (n = 1) 6 months after. No deaths appeared in the study sample. Conclusion: In most patients who developed proteinuria and arterial hypertension during the acute phase, it remained 6 months after the discharge. Even though RRT had to be performed in more than a third of the patients, remaining kidney function impairment 6 months after the discharge was only found in 1 patient.

Introduction: Objectives: To determine the value of urinary neutrophil gelatinase-associated lipocalin (uNGAL) and interleukin 18(uIL-18) in the diagnosis of pediatric acute kidney injury (AKI) and prognosis of its course. Material and methods: The study included 138 subjects: 107 critically ill patients who met the inclusion criteria and 31 healthy children as the control group. Serum creatinine; urinary creatinine (uCr), uNGAL, and uIL-18 were assessed in the case group on days 1 and 3. The case group was divided into AKI (n=32) and non-AKI (n=75) subgroups according to pRIFLE criteria. Results: The uNGAL level on day 1 was 0.17 (0.01-2.68) ng/ml in the control group, 2.5 (5.23-6.78) ng/ml in the non-AKI subgroup and 2.99 (1.44-10.45) ng/ml in the AKI subgroup (P=0.04). On day 3 the levels were 0.17 (0.01-2.68) ng/ml, 1.84 (0.42-6.88) ng/ml and 7.56 (0.79-12.56) ng/ml respectively (P=0.018). The uNGAL/uCr ratio on day 1 was 0.22 (0.03-6.46) ng/ml in the control group, 4.67 (1.1-14.11) ng/mg in the non-AKI subgroup, and 12.10 (2.47-90.27) ng/mg in the AKI subgroup (P=0.007). On day 3 the ratios were 0.22 (0.03-6.46) ng/ml 3.94 (1.79-14.66) ng/ml and 12.48 (2.62-14.48) ng/ml respectively (P=0.015). In the AKI subgroup, the uIL-18 level on day 1 was 60.99 (56.17-68.67) ng/l in children whose AKI resolved within a 5-day period, and 69.78 (62.17-74.22) ng/l in children whose AKI persisted or progressed. The uIL-18 level of > 69.24 pg/mL on day 1 was associated with an 8-fold increased risk of AKI progression (OR = 8.33, 95% CI = 1.39 to 49.87, P = 0.023). Conclusions: The uNGAL level and the uNGAL/uCr ratio on days 1 and 3 were found to be reliable prognostic biomarkers of AKI. The uIL-18 level was found to be a significant prognostic factor for AKI progression in the AKI subgroup.