Mowat–Wilson syndrome – case study

Mowat–Wilson syndrome is a rare genetic condition characterised by a number of congenital anomalies, including facial dysmorphia, heart and kidney anomalies, Hirschsprung’s disease, intellectual disability and abnormalities of reproductive organs. In the paper, we present a case of a girl who was admitted to the Department of Paediatrics, Immunology and Nephrology at the age of 3 months, with a suspicion of tubulointerstitial nephritis. The patient had facial dysmorphia, congenital malformations of the nervous system and Hirschsprung’s disease. During hospitalisation, congenital urinary anomalies (bilateral vesicoureteral reflux) and heart defects were diagnosed. On the basis of the clinical picture, the diagnostics was expanded to genetic tests for Mowat–Wilson syndrome, which revealed an 857_858delAG pathogenic mutation in one of the ZEB2 gene alleles (exon 7) – one of the rarer causes of Mowat–Wilson syndrome. At present, the girl is 13 months old. Her development is delayed. Currently, the girl is under multidisciplinary care and she is undergoing intensive rehabilitation. The knowledge of the syndrome’s clinical features allows a faster diagnosis to be made and multispecialty care to be provided to the child

The effects of adenotonsillotomy on nocturnal enuresis in snoring children

Introduction: Nocturnal enuresis is a common problem in the paediatric population. A number of reports indicate that there is a relationship between sleep-disordered breathing in children with tonsillar hypertrophy and nocturnal enuresis. Restoration of nasopharyngeal patency may eliminate nocturnal enuresis. Aim: The aim of the study was to evaluate the incidence of nocturnal enuresis in children snoring due to nasopharyngeal lymphatic tissue hypertrophy as well as to assess the effects of restored upper respiratory patency by means of adenectomy and tonsillectomy on the resolution of nocturnal enuresis in children. Material and methods: The study included 50 children with sleep-disordered breathing qualified for adenectomy, tonsillotomy or adenotonsillotomy (median age 7 years). The control group consisted of 20 healthy children (median age 8 years). Children in the study group were assessed prior to surgical procedure as well as 3 and 6 months after surgery. The presence of sleep-disordered breathing and nocturnal enuresis was determined based on author’s questionnaire completed by parents. Results: The incidence of nocturnal enuresis in children with nasopharyngeal lymphatic tissue hypertrophy was 18% (M:F 17%:19%; p > 0.05). Nocturnal enuresis was still reported in 6% of children 3 months after tonsillotomy. The disorder resolved in all girls and 97% of boys 6 months after procedure. Conclusions: Sleep-disordered breathing in children with nasopharyngeal lymphatic tissue hypertrophy is associated with nocturnal enuresis. Restoration of nasopharyngeal patency in these patients eliminates nocturnal enuresis. Tonsillar hypertrophy causing obstructive breathing should be included in the differential diagnosis of nocturnal enuresis

Effects and Safety of Convalescent Plasma Administration in a Group of Polish Pediatric Patients with COVID-19: A Case Series

Despite the enormous advances in knowledge about the SARS-CoV-2 infection, the optimal treatment for COVID-19 is still not well defined. The use of convalescent plasma seems to be a promising method of treatment but requires further evaluation. Although it is usually mild, in children with underlying chronic diseases, the course of SARS-CoV-2 infection may be very severe. We described a series of 13 pediatric patients (mean age 10.4 years, median 12) treated with convalescent plasma as a method of COVID-19 therapy. Medical history, with particular emphasis on comorbidities, clinical course, laboratory parameters, supportive treatment and virus elimination time, were analyzed. The mean hospitalization time was 22.6 days (median 20). The most common abnormalities included increased levels of C-reactive protein, D-dimer, and lymphopenia. Median time from symptom onset to convalescent plasma transfusion was 10.6 days (median 7 days). Six patients (46.2%) had a viral clearance on RT-PCR method from a nasopharyngeal swab within 3 days of transfusion, while in the remaining patients the mean elimination time was 12.1 days (median 6 days). Clinical improvement was achieved in all patients; no adverse effects were found in any of the cases. Convalescent plasma may be a promising treatment for COVID-19 in children

12-month assessment of increase in total kidney volume in children and young adults with autosomal dominant polycystic kidney disease – a pilot study

WSTĘP: Autosomalna dominująca wielotorbielowatość nerek (ADPKD – autosomal dominant polycystic kidney disease) to najczęstsza z dziedziczonych monogenowo chorób nerek. Stanowi przyczynę schyłkowej niewydolności nerek u 5–10% dorosłych leczonych nerkozastępczo. Dawniej uważana była za chorobę ludzi dorosłych, lecz od czasu upowszechnienia badań ultrasonograficznych zaczęto obserwować jej występowanie także u dzieci. MATERIAŁ I METODY: Grupę badaną stanowiło 19 pacjentów z prawidłową czynnością nerek (w wieku 1,8–18,8 roku w trakcie kontroli, 12 dziewczynek, 7 chłopców) chorujących na ADPKD. Spośród pacjentów 15 spełniało ultrasonograficzne kryteria rozpoznania choroby, a 4 nie spełniało kryteriów, przy czym były to dzieci z dodatnim wywiadem rodzinnym w kierunku ADPKD, a w USG stwierdzono minimum 2 torbiele. Całkowita objętość nerek (TKV), określona jako suma objętości obu nerek, została odniesiona do powierzchni ciała pacjenta (TKV/BSA). Dzieci badane były średnio co 12 miesięcy. WYNIKI: W badanej grupie stwierdzono istotny statystycznie roczny przyrost całkowitej objętości nerek (w 2015 r. 296,71 ± 178,67 cm3 vs. 350,38 ± 195,86 cm3 w 2016 r.; p = 0,019) oraz także TKV w odniesieniu do powierzchni ciała (w 2015 r. 191,23 ± 86,29 cm3/m2 vs. 221,15 ± 96,99 cm3/m2 w 2016 r.; p = 0,037). Nie uwidoczniono różnic w tempie przyrost całkowitej objętości nerek w zależności od płci (dziewczynki 32,45 ± 51,88 cm3/m2/rok vs. chłopcy 25,56 ± 71,00 cm3/m2/rok; p = 0,81) oraz ze względu na zaawansowanie choroby, ocenianej jako liczba stwierdzonych w badaniu ultrasonograficznym torbieli w obrębie nerek (< 5 torbieli 30,77 ± 61,6 cm3/m2/rok vs. ≥ 5 torbieli 29,41 ± 58,22 cm3/m2/rok; p = 0,96). WNIOSKI: U dzieci i młodych dorosłych z ADPKD można zaobserwować zwiększenie względnej całkowitej objętości nerek (w odniesieniu do BSA) już w trakcie 12-miesięcznej obserwacji.INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of monogenic kidney disease. It is the cause of ESRD in 5–10% of adult patients who undergo renal replacement therapy. Owing to the increasing use of ultrasonography, occurrence of the disease has been observed among children. MATERIAL AND METHODS: The research group consisted of 19 patients with normal kidney function (12 girls and 7 boys aged 1.8–18.8 at the moment of examination) who suffered from ADPKD. 15 patients met the ultrasonographic criteria of the diagnosis. Although the remaining 4 patients did not meet the criteria, they had a strong family history of ADPKD and underwent USG which revealed at least 2 cysts. For each patient, the Total Kidney Volume (TKV), defined as the sum volume of both kidneys, was juxtaposed with BSA. The children underwent the examination approximately every 12 months. RESULTS: The members of the research group manifested a statistically significant annual increase in TKV (in 2015, 296.71 ± 178.67 cm3 versus 350.38 ± 195.86 cm3 in 2016, p = 0.019), as well as TKV in relation to body surface (in 2015, 191.23 ± 86.29 cm3/m2 versus 221.15 ± 96.99 cm3/m2 in 2016, p = 0.037). There were no apparent differences in the rate of total TKV increase which would depend either on the patient's gender (girls 32.45 ± 51.88 cm3/m2/year versus boys 25.56 ± 71.00 cm3/m2/year, p = 0.81), or on the number of renal cysts revealed by USG (< 5 cysts 30.77 ± 61.6 cm3/m2/year versus ≥ 5 cysts 29.41 ± 58.22 cm3/m2/year, p = 0.96). CONCLUSION: In children and young adults with ADPKD, the increase in total kidney volume (in relation to BSA) can be observed after a 12-month observation

12-month assessment of increase in total kidney volume in children and young adults with autosomal dominant polycystic kidney disease – a pilot study

WSTĘP: Autosomalna dominująca wielotorbielowatość nerek (ADPKD – autosomal dominant polycystic kidney disease) to najczęstsza z dziedziczonych monogenowo chorób nerek. Stanowi przyczynę schyłkowej niewydolności nerek u 5–10% dorosłych leczonych nerkozastępczo. Dawniej uważana była za chorobę ludzi dorosłych, lecz od czasu upowszechnienia badań ultrasonograficznych zaczęto obserwować jej występowanie także u dzieci. MATERIAŁ I METODY: Grupę badaną stanowiło 19 pacjentów z prawidłową czynnością nerek (w wieku 1,8–18,8 roku w trakcie kontroli, 12 dziewczynek, 7 chłopców) chorujących na ADPKD. Spośród pacjentów 15 spełniało ultrasonograficzne kryteria rozpoznania choroby, a 4 nie spełniało kryteriów, przy czym były to dzieci z dodatnim wywiadem rodzinnym w kierunku ADPKD, a w USG stwierdzono minimum 2 torbiele. Całkowita objętość nerek (TKV), określona jako suma objętości obu nerek, została odniesiona do powierzchni ciała pacjenta (TKV/BSA). Dzieci badane były średnio co 12 miesięcy. WYNIKI: W badanej grupie stwierdzono istotny statystycznie roczny przyrost całkowitej objętości nerek (w 2015 r. 296,71 ± 178,67 cm3 vs. 350,38 ± 195,86 cm3 w 2016 r.; p = 0,019) oraz także TKV w odniesieniu do powierzchni ciała (w 2015 r. 191,23 ± 86,29 cm3/m2 vs. 221,15 ± 96,99 cm3/m2 w 2016 r.; p = 0,037). Nie uwidoczniono różnic w tempie przyrost całkowitej objętości nerek w zależności od płci (dziewczynki 32,45 ± 51,88 cm3/m2/rok vs. chłopcy 25,56 ± 71,00 cm3/m2/rok; p = 0,81) oraz ze względu na zaawansowanie choroby, ocenianej jako liczba stwierdzonych w badaniu ultrasonograficznym torbieli w obrębie nerek (< 5 torbieli 30,77 ± 61,6 cm3/m2/rok vs. ≥ 5 torbieli 29,41 ± 58,22 cm3/m2/rok; p = 0,96). WNIOSKI: U dzieci i młodych dorosłych z ADPKD można zaobserwować zwiększenie względnej całkowitej objętości nerek (w odniesieniu do BSA) już w trakcie 12-miesięcznej obserwacji.INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of monogenic kidney disease. It is the cause of ESRD in 5–10% of adult patients who undergo renal replacement therapy. Owing to the increasing use of ultrasonography, occurrence of the disease has been observed among children. MATERIAL AND METHODS: The research group consisted of 19 patients with normal kidney function (12 girls and 7 boys aged 1.8–18.8 at the moment of examination) who suffered from ADPKD. 15 patients met the ultrasonographic criteria of the diagnosis. Although the remaining 4 patients did not meet the criteria, they had a strong family history of ADPKD and underwent USG which revealed at least 2 cysts. For each patient, the Total Kidney Volume (TKV), defined as the sum volume of both kidneys, was juxtaposed with BSA. The children underwent the examination approximately every 12 months. RESULTS: The members of the research group manifested a statistically significant annual increase in TKV (in 2015, 296.71 ± 178.67 cm3 versus 350.38 ± 195.86 cm3 in 2016, p = 0.019), as well as TKV in relation to body surface (in 2015, 191.23 ± 86.29 cm3/m2 versus 221.15 ± 96.99 cm3/m2 in 2016, p = 0.037). There were no apparent differences in the rate of total TKV increase which would depend either on the patient's gender (girls 32.45 ± 51.88 cm3/m2/year versus boys 25.56 ± 71.00 cm3/m2/year, p = 0.81), or on the number of renal cysts revealed by USG (< 5 cysts 30.77 ± 61.6 cm3/m2/year versus ≥ 5 cysts 29.41 ± 58.22 cm3/m2/year, p = 0.96). CONCLUSION: In children and young adults with ADPKD, the increase in total kidney volume (in relation to BSA) can be observed after a 12-month observation

Clinical Picture and Risk Factors of Severe Respiratory Symptoms in COVID-19 in Children

Children with COVID-19 develop moderate symptoms in most cases. Thus, a proportion of children requires hospital admission. The study aimed to assess the history, clinical and laboratory parameters in children with COVID-19 concerning the severity of respiratory symptoms. The study included 332 children (median age 57 months) with COVID-19. History data, clinical findings, laboratory parameters, treatment, and outcome, were evaluated. Children were compared in the groups that varied in the severity of symptoms of respiratory tract involvement. Children who required oxygen therapy represented 8.73%, and intensive care 1.5% of the whole cohort. Comorbidities were present in 126 patients (37.95%). Factors increasing the risk of oxygen therapy included comorbidities (odds ratio (OR) = 92.39; 95% confidence interval (95% CI) = (4.19; 2036.90); p &lt; 0.00001), dyspnea (OR = 45.81; 95% CI (4.05; 518.21); p &lt; 0.00001), auscultation abnormalities (OR = 34.33; 95% CI (2.59; 454.64); p &lt; 0.00001). Lactate dehydrogenase (LDH) &gt; 280 IU/L and creatinine kinase &gt; 192 IU/L were parameters with a good area under the curve (0.804-LDH) and a positive predictive value (42.9%-CK). The clinical course of COVID-19 was mild to moderate in most patients. Children with comorbidities, dyspnea, or abnormalities on auscultation are at risk of oxygen therapy. Laboratory parameters potentially useful in patients evaluated for the severe course are LDH &gt; 200 IU/L and CK &gt; 192 IU/L

Clinical and Epidemiological Characteristics of 1283 Pediatric Patients with Coronavirus Disease 2019 during the First and Second Waves of the Pandemic—Results of the Pediatric Part of a Multicenter Polish Register SARSTer

This prospective multicenter cohort study aimed to analyze the epidemiological and clinical characteristics of coronavirus disease 2019 (COVID-19) in children. The study, based on the pediatric part of the Polish SARSTer register, included 1283 children (0 to 18 years) who were diagnosed with COVID-19 between 1 March 2020 and 31 December 2020. Household contact was reported in 56% of cases, more frequently in younger children. Fever was the most common symptom (46%). The youngest children (0–5 years) more frequently presented with fever, rhinitis and diarrhea. Teenagers more often complained of headache, sore throat, anosmia/ageusia and weakness. One fifth of patients were reported to be asymptomatic. Pneumonia was diagnosed in 12% of patients, more frequently in younger children. During the second wave patients were younger than during the first wave (median age 53 vs. 102 months, p &lt; 0.0001) and required longer hospitalization (p &lt; 0.0001). Significantly fewer asymptomatic patients were noted and pneumonia as well as gastrointestinal symptoms were more common. The epidemiological characteristics of pediatric patients and the clinical presentation of COVID-19 are age-related. Younger children were more frequently infected by close relatives, more often suffered from pneumonia and gastrointestinal symptoms and required hospitalization. Clinical courses differed significantly during the first two waves of the pandemic

Clinical Course and Severity of COVID-19 in 940 Infants with and without Comorbidities Hospitalized in 2020 and 2021: The Results of the National Multicenter Database SARSTer-PED

This study aimed to analyze the differences in severity and clinical characteristics of COVID-19 in infants hospitalized in Poland in 2021, when the dominance of variants of concern (VOCs) alpha and delta was reported, compared to 2020, when original (wild) SARS-CoV-2 was dominant (III–IV vs. I–II waves of the pandemic, respectively). In addition, the influence of the presence of comorbidities on the clinical course of COVID-19 in infants was studied. This multicenter study, based on the pediatric part of the national SARSTer database (SARSTer-PED), included 940 infants with COVID-19 diagnosed between March 1, 2020, and December 31, 2021, from 13 Polish inpatient centers. An electronic questionnaire, which addressed epidemiological and clinical data, was used. The number of hospitalized infants was significantly higher in 2021 than in 2020 (651 vs. 289, respectively). The analysis showed similar lengths of infant hospitalization in 2020 and 2021, but significantly more children were hospitalized for more than 7 days in 2020 (p p < 0.0001). Severe and critical conditions were significantly more common among children with comorbidities. More infants were hospitalized during the period of VOCs dominance, especially the delta variant, compared to the period of wild strain dominance, even though indications for hospitalization did not include asymptomatic patients during that period. The course of COVID-19 was mostly mild, characterized mainly by fever and respiratory symptoms. Comorbidities, particularly from the cardiovascular system and prematurity, were associated with a more severe course of the disease in infants