A CHILD WITH DENSE DEPOSIT DISEASE AND DECREASED CLASSIC COMPLEMENT PATHWAY ACTIVITY.

We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.

OUR EXPERIENCE WITH CONTRAST-ENHANCED VOIDING UROSONOGRAPHY.

Vesicoureteral reflux (VUR) is one of the most common anomalies of the urinary system in children. Contrast-enhanced voiding urosonography (ceVUS) is one of the best methods in VUR diagnosis. This study compared characteristics associated with VUR specific images and categorized patients according to a particular VUR grade. The study included 183 children. VUR was detected in 38.9% of patients, mean age 1.7±1.1 years. Grade II VUR was most common (60.3%), followed by grade III (29.4%). Study results showed that VUR occurred irrespective of age, gender, previous ultrasound findings, causative agent, and severity of urinary tract infection (UTI). VUR was more common in children with recurrent UTI. In the group of children with the first UTI not caused by Escherichia coli or with recurrent UTI, boys more commonly suffered from severe VUR (grade IV-V; 66.7%), while girls suffered from moderate VUR (grade II-III; 100%). In this study, the incidence of VUR in prenatally diagnosed hydronephrosis was 28.6%. It is necessary to develop an algorithm for the treatment of children after UTI in Croatia, which should include ceVUS. All children with possible VUR should be referred to a specialized center where it is possible to perform ceVUS.

Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a PKD1 mutation, while the third sister aged 8 was heterozygous for TTC21B c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD.

Does transitory steroid-induced central hypothyroidism in children treated for haematological malignancies warrant clinical intervention?

INTRODUCTION: Steroid-induced central hypothyroidism (CH) is a frequent but under-diagnosed hormonal disturbance in children treated for acute lymphoblastic leukaemia (ALL) and lymphoma. AIM OF THE STUDY: To determine the occurrence, frequency of symptoms, replacement therapy administration, and association of CH with glucocorticoid therapy in children treated for haematological malignancies. MATERIAL AND METHODS: A prospective clinical survey was conducted on 21 patients (61.9% male, mean age 9.1 years) treated in the Children's Hospital Zagreb during 2019, of whom 12 were treated for for ALL and 6 for Hodgkin lymphoma (HL), based on clinical (signs and symptoms) and laboratory data (hormonal status). RESULTS: Overt CH was verified in 15 (71.4%) and mild CH in 3 patients (14.2%). The most common symptoms and signs were fatigue, apathy, and electrolyte imbalance, observed in 50% of CH cases. Hormonal substitutional therapy was initiated in 44.4% of affected patients, during a mean of 2.08 months, with significant clinical improvement. Overt CH was more prevalent in patients with ALL than in those with HL (p = 0.025). Among children with ALL there was no difference in CH occurrence between the prednisone and dexamethasone groups; however, dexamethasone-induced CH was more frequently symptomatic (p = 0.03). The prednisone dosage played no role in CH incidence in patients with HL. CONCLUSIONS: Further studies are needed to determine the real incidence of thyroid dysfunction during intensive chemotherapy treatment in children with ALL and lymphoma. Recommendations for optimal hormonal replacement therapy and a follow-up plan for paediatric oncology patients with CH are also urgently required.

Turner Syndrome: for successful treatment it is necessary to diagnose it early.

BACKGROUND: Turner Syndrome (TS) is a chromosomal disorder with short stature as the most common feature. The aim of this paper was to show the characteristics of TS patients treated at our Clinic, with an emphasis on their age at diagnosis and the effect of growth hormone therapy on their final height and height gain. METHODS: This retrospective study is based on the medical records of 37 female pediatric patients aged 0-18 years treated at the Pediatric Department of the Sestre Milosrdnice University Hospital Center from 1997 to 2017. RESULTS: Mean age at diagnosis is 7.55±5.13 years. In the observed period a trend towards later diagnosis was shown (P=0.004). Most patients (26) were treated with rhGH. The average height of all patients who reached their final height (N.=30) was 151.49±6.49 cm (standard deviation score [SDS]: -1.73±1.11). The initial height SDS was significantly lower in the treated compared to the untreated patients (P=0.02). The final height was 151.59±7.21 cm (SDS: -1.72±1.3) in the treated and 151.12±5.85 cm (SDS: -1.77±0.94) in the untreated patients. The difference between the initial and final height was significantly greater in the treated patients compared to the untreated patients (30.46 and 16.28 cm, P=0.039). The same was true for the difference between the initial and final height SDS (0.78, or -0.3, P=0.042). CONCLUSIONS: Based on the results of this research, TS is increasingly diagnosed at a later age. The effect of rhGH therapy was favorable and resulted in a greater height gain in the treated patients.