Nephrogenic Diabetes Insipidus in Childhood: Assessment of Volume Status and Appropriate Fluid Replenishment.

Patients affected by nephrogenic diabetes insipidus (NDI) can present with hypernatremic dehydration, and first-line rehydration schemes are completely different from those largely applied in usual conditions determining a mild to severe hypovolemic dehydration/shock. In reporting the case of a patient affected by NDI and presenting with severe dehydration triggered by acute pharyngotonsillitis and vomiting, we want to underline the difficulties in managing this condition. Restoring the free-water plasma amount in patients affected by NDI may not be easy, but some key points can help in the first line management of these patients: (1) hypernatremic dehydration should always be suspected; (2) even in presence of severe dehydration, skin turgor may be normal and therefore the skinfold recoll should not be considered in the dehydration assessment; (3) decreased thirst is an important red flag for dehydration; (4) if an incontinent patient with NDI appears to be dehydrated, it is important to place the urethral catheter to accurately measure urine output and to be guided in parenteral fluid administration; (5) if the intravenous route is necessary, the more appropriate fluid replenishment is 5% dextrose in water with an infusion rate that should slightly exceed the urine output; (6) the 0.9% NaCl solution (10 mL/kg) should only be used to restore the volemia in a shocked NDI patient; and (7) it could be useful to stop indomethacin administration until complete restoration of hydration status to avoid a possible worsening of a potential prerenal acute renal failure.

Micturition Syncope in Childhood: How to Recognize and Manage It.

Frequently, general pediatricians could face a patient with syncope, which represents approximately 1% to 3% of emergency visits. Micturition syncope is a transient loss of consciousness with onset immediately before, during, or after micturition. Literature evidence indicates that healthy young men are a population with major risk for presenting micturition syncope, with a peak of incidence around 40 to 50 years of age. Usually, this syncope occurs in the morning, after wake-up, or, more generally, when the male patients assume the orthostatic position after a period of supine position in a warm bed. No information on micturition syncope clinical presentation and prevalence in childhood is available in the literature, and probably, this kind of syncope is unrecognized in childhood. We describe 4 unreported pediatric patients with a diagnosis of micturition syncope and well-defined clinical presentation. In all patients, the syncope has been presented in the same conditions: in the morning; after wake-up; in an orthostatic position; just before, after, or during urinary bladder voiding; and with spontaneous recovery in few minutes. Interestingly, 1 patient presented with the syncope during urinary bladder voiding by autocatheterization. In our patients, all investigations made as the first approach in the pediatric emergency department did not show any abnormal results, possibly underlying the syncope episodes. By describing our experience, we want to underline the clinical presentation of micturition syncope and give to the clinicians the elements to recognize and manage it easily in children.

Anthropometric and Biochemical Determinants of Estimated Glomerular Filtration Rate in a Large Cohort of Obese Children.

OBJECTIVE: We aimed to investigate which clinical and metabolic factors could influence the estimated glomerular filtration rate (eGFR) levels, evaluating a large population of obese children without suspect of primary kidney disease. DESIGN: Retrospective, cross-sectional study. SETTING: Pediatric university department. SUBJECTS: We enrolled 2,957 obese children and adolescents consecutively attending our department between January 2000 and 2017. Inclusion criteria were body mass index (BMI) > 95th percentile and eGFR > 90 mL/min/1.73 m2. Exclusion criteria were secondary forms of obesity, eGFR < 90 mL/min/1.73 m2, proteinuria/hematuria at urine dipstick, or consumption of any medication. INTERVENTIONS: Weight, waist circumference, height, waist to height ratio (W/Hr), BMI-standard deviation score (SDS), pubertal stage, systolic blood pressure (SBP) and diastolic blood pressure (DBP), duration of obesity, insulin, eGFR, and homeostasis model assessment (HOMA-IR) were obtained. A general linear model was performed for a multiple variable analysis. MAIN OUTCOME MEASURE: The population was divided in tertiles for BMI-SDS, W/Hr, SBP- and DBP-SDS, HOMA-IR, and duration of obesity. We compared eGFR levels among these tertiles. RESULTS: The eGFR levels significantly increased across both BMI-SDS and W/Hr tertiles. Conversely the eGFR levels significantly decreased across SBP-SDS, HOMA-IR, and duration of obesity tertiles. No significant differences in eGFR levels across DBP-SDS tertiles were detected. Pubertal patients presented significantly lower eGFR values compared with prepubertal patients. A general linear model for eGFR variance including as covariates W/Hr, HOMA-IR, duration of obesity, pubertal stage, BMI-SDS, and SBP-SDS (model R2 39.7%; model P < .00001) was performed. It confirmed a direct association of eGFR values with BMI-SDS and an indirect association with HOMA-IR, duration of obesity, pubertal stage, and SBP-SDS. CONCLUSIONS: We showed a positive correlation of eGFR with both BMI-SDS and a negative one with SBP-SDS, HOMA-IR, pubertal stage, and duration of obesity. The duration of obesity was the variable most significantly associated to eGFR levels.

Outcomes of a Cohort of Prenatally Diagnosed and Early Enrolled Patients with Congenital Solitary Functioning Kidney.

PURPOSE: We evaluated the clinical course of patients prenatally diagnosed and enrolled early with congenital solitary functioning kidney, and identified the risk factors for renal injury. MATERIALS AND METHODS: We retrospectively evaluated 322 patients with congenital solitary functioning kidney according to the inclusion criteria of 1) prenatal diagnosis of solitary kidney; 2) first evaluation at 1 to 3 months of life with confirmation of congenital solitary functioning kidney, and evaluation of possible associated congenital anomalies of the kidney and urinary tract by abdominal ultrasound, renal scintigraphy and cystography; and 3) absence of any condition potentially affecting renal function in the neonatal period as well as absence of renal injury at enrollment (1 to 3 months of life) confirmed by a normal estimated glomerular filtration rate, lack of proteinuria and hypertension. Followup of 306 patients was evaluated. RESULTS: Median followup was 7.2 years (range 1 to 23) and 1 or more signs of renal injury were found in 12 of 306 patients (3.9%). Considering the entire population the cumulative proportion of patients free from renal injury at 17 years old was 93.7%, vs 81.3% and 95.9% for subjects with and those without congenital anomalies of the kidney and urinary tract of congenital solitary functioning kidney (p <0.001), respectively. Of congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney resulted in significant risk factors for renal injury (HR 8.75, 95% CI 2.77-27.65). CONCLUSIONS: In an evaluation of a large cohort of patients enrolled early with congenital solitary functioning kidney with a prenatal diagnosis, excluding those with neonatal onset of renal damage, the prevalence of renal damage was 3.9%. Among congenital anomalies of the kidney and urinary tract, congenital solitary functioning kidney represented the major risk factor.

A case of urticarial vasculitis in a female patient with lupus: Mycoplasma pneumoniae infection or lupus reactivation?

A 17-year-old female patient affected by systemic lupus erythematosus (SLE) (who had been taking 300 mg/die of hydroxychloroquine for 3 years), Graves' disease (treated with 10 mg/die of tapazole), and celiac disease came to our attention for urticarial vasculitis. She had been taking prednisone (25 mg/die) for 3 days, and her blood tests showed high levels of Mycoplasma pneumoniae IgM and IgG antibodies. The association between urticaria and M. pneumoniae infections can be present in up to 7% of the cases and, to the best of our knowledge, only two reports of urticarial vasculitis and M. pneumoniae in adults are available in the literature. Urticarial vasculitis can also be a rare cutaneous manifestation of SLE (affecting 2% of the patients), and our case is the first in the literature describing the coexistence of M. pneumoniae infection, SLE, and urticarial vasculitis in a pediatric patient, a case that rises an important differential diagnosis issue about the origin of urticarial vasculitis: SLE reactivation or urticarial vasculitis due to M. pneumoniae infection?

M-mode ultrasound for assessment of the "tethered fat sign" in children: an easily performed way to certify a dynamic process as a still picture.

Background: Omental infarction is a rare pediatric disease. Ultrasound is a useful modality for a non-invasive pre-operative differential diagnosis between inflammatory conditions (as appendicitis) and omental infarction, especially by detecting immobility of the omentum adhered to the abdominal wall ("tetherd fat sign"). However, this is a dynamic sign that cannot be documented in a static image with B-mode technique. The goal of this work is to incorporate the versatile function of motion mode (M-mode) into omental infarction diagnosis to describe how the M-mode is useful in the evaluation of fat motion in children suspected of having omental infarction. In 2019 we suggested a new Ultrasound sign named "tethered fat sign" for an accurate non-invasive diagnosis of omental infarction in children. This finding was observed in 6 of the 234 seen children of our previous study with 4 laparoscopic confirmed diagnosis. Methods: From January 2019 to July 2021, we evaluated 195 children (91 boys and 104 girls, from 3 to 15 years) admitted to our Santobono-Pausilipon Children Hospital with acute right-sided abdominal pain. Abdominal ultrasound was performed to all the patients and the investigation of "tethered fat sign" was always included. Results: In 7 patients ultrasound showed the presence of a hyperechoic oval mass localized in the right upper abdominal quadrant and in 2 of these M-mode documented a normal subhepatic fat moving during respiratory movements in relation with the abdominal wall. The remaining 5 patients had an omental infarction showed as a subhepatic motionless mass tethered to the abdominal wall on M-mode. In these patients, a sonographic follow-up was performed every 15 d for 2 months showing a progressive reduction in size of the right-sided hyperechoic mass. Conclusions: In the evaluation of all children who showed the presence of the "tethered fat sign" the use of M-mode provide a certified image in diagnostic ultrasound.

Hypoglycaemia and hyperglycaemia in neonatal encephalopathy: a systematic review and meta-analysis.

IMPORTANCE: Although hypoglycaemia and hyperglycaemia represent the most common metabolic problem in neonates, there is still uncertainty regarding the effects of glucose homoeostasis on the neurological outcomes of infants with neonatal encephalopathy (NE). OBJECTIVE: To systematically investigate the association between neonatal hypoglycaemia and hyperglycaemia with adverse outcome in children who suffered from NE. STUDY SELECTION: We searched Pubmed, Embase and Web of Science databases to identify studies which reported prespecified outcomes and compared infants with NE who had been exposed to neonatal hypoglycaemia or hyperglycaemia with infants not exposed. DATA ANALYSIS: We assessed the risk of bias (ROBINS-I), quality of evidence (Grading of Recommendations, Assessment, Development and Evaluation (GRADE)) for each of the studies. RevMan was used for meta-analysis (inverse variance, fixed effects). MAIN OUTCOME: Death or neurodevelopmental outcomes at 18 months of age or later. RESULTS: 82 studies were screened, 28 reviewed in full and 12 included. Children who were exposed to neonatal hypoglycaemia had higher odds of neurodevelopmental impairment or death (6 studies, 685 infants; 40.6% vs 25.4%; OR=2.17, 95% CI 1.46 to 3.25; p=0.0001). Neonatal exposure to hyperglycaemia was associated with death or neurodisability at 18 months or later (7 studies, 807 infants; 46.1% vs 28.0%; OR=3.07, 95% CI 2.17 to 4.35; p<0.00001). These findings were confirmed in the subgroup analysis, which included only the infants who underwent therapeutic hypothermia. CONCLUSIONS: These data suggest that neonatal hypoglycaemia and hyperglycaemia may be associated with the neurodevelopmental outcome later on in infants with NE. Further studies with long-term follow-up are needed to optimise the metabolic management of these high-risk infants. PROSPERO REGISTRATION NUMBER: CRD42022368870.

Magnetic Resonance Biomarkers and Neurological Outcome of Infants with Mild Hypoxic-Ischaemic Encephalopathy Who Progress to Moderate Hypoxic-Ischaemic Encephalopathy.

BACKGROUND: There is increasing concern that infants with mild hypoxic-ischaemic encephalopathy (HIE) may develop seizures and progress to moderate HIE beyond the therapeutic window for cooling. OBJECTIVE: The aim of this study was to examine the effect of therapeutic hypothermia on magnetic resonance imaging (MRI) biomarkers and neurological outcomes in infants with mild HIE and seizures within 24 h after birth. METHODS: This study shows an observational cohort study on 366 (near)-term infants with mild HIE and normal amplitude-integrated electroencephalography background. RESULTS: Forty-one infants showed progression (11.2%); 29/41 (70.7%) were cooled. Infants with progression showed cerebral metabolite perturbations and higher white matter injury scores compared to those without in both cooled and non-cooled groups (p = 0.001, p = 0.02). Abnormal outcomes were seen in 5/12 (42%) non-cooled and 7/29 (24%) cooled infants with progression (p = 0.26). CONCLUSIONS: Early biomarkers are needed to identify infants with mild HIE at risk of progression. Mild HIE infants with progression showed a higher incidence of brain injury and abnormal outcomes.

Angioma serpiginosum: Two cases in children and review of literature.

Angioma serpiginosum (AS) is a rare benign vascular lesion that typically arises in early childhood, with a prevalence in female, and then grow up over a period of months/years. It is characterized by small asymptomatic purple-red dots that cluster together and they do not disappear on diascopy. It is mainly localized on the arms but some cases on face and neck have been reported. The etiology of AS is unknown, dermoscopy may aid in the diagnosis but usually the biopsy is necessary. We report 2 cases: one male and one female with angioma serpiginosum, aged 13 and 8 years old.

Midsternal bump: an infrequent localization of dermoid cysts.

A 5-month-old boy was evaluated for an unusually large presternal bump present since birth. The ultrasound examination revealed a well-defined soft tissue mass with an oval shape. The lesion demonstrated a regular and well-demarcated outline, with an upper margin that was thinned and inserted into the upper skin plane; the content was anechoic with a small echogenic formation, mobile with changes in the patient's decubitus. The histologic diagnosis was dermoid cyst. Although dermoid cysts are commonly seen in the midline, the midsternal location, found in our patient, is rare. Dermoid cysts can have ultrasonographic features similar to those of other subcutaneous cystic masses. However, if an anechoic cyst with an internal well-circumscribed echogenic ball-like formation is seen within the presternal subcutaneous fat layer, as in our patient, dermoid cyst should be considered in the differential diagnosis of subcutaneous cystic masses.

From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children.

BACKGROUND: The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease. OBJECTIVES: The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa. METHODS: We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer. We selected only articles reporting a link between nephrology and dermatology in pediatrics, and they are all included in this comprehensive review. RESULTS: Kawasaki disease, Henoch-Schönlein purpura, systemic lupus erythematosus, Dent disease, subcutaneous fat necrosis, Langerhans cell histiocytosis, renal cell carcinoma, non-Hodgkin lymphoma, tuberous sclerosis complex and syndromes with increased risk for Wilms tumor, Fabry disease, nail-patella syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Adams-Oliver syndrome 1, Apert syndrome, Fanconi pancytopenia syndrome, Pallister-Hall syndrome, and Fanconi pancytopenia syndrome are all conditions in which there can be both nephrological and dermatological manifestations in children. CONCLUSIONS: We could not find any reports that focused attention on the link between nephrological and dermatological manifestations of the same disease in children. It is also important for clinicians to keep in mind that in what may appear to be an exclusively dermatological disease, there can be nephrological manifestations as part of the same disorder and vice versa.

"Tethered Fat Sign": The Sonographic Sign of Omental Infarction.

Our purpose is to describe the ultrasound sign for a correct non-invasive diagnosis of omental infarction in children. From January 2014 to December 2018, a total of 234 children (109 boys and 125 girls, age range 3-15 y) with acute right-sided abdominal pain, admitted to our hospital with a presumptive diagnosis of acute appendicitis, were prospectively evaluated. In all patients, abdominal ultrasound was performed, and the omental fat was always evaluated. In 228 patients, the omental fat resulted to be normal or hyperechogenic, never tethered, and they results affected by other causes of abdominal pain different from omental infarction (such as appendicitis, pancreatitis, urolithiasis and others). In the remaining 6 children, we found a hyperechoic mass between the anterior abdominal wall and the ascending or transverse colon in the right abdomen quadrant, suggesting the diagnosis of omental infarction. This subhepatic mass was always tethered to the abdominal wall, motionless during respiratory excursions. We named this finding the "tethered fat sign." The diagnosis was confirmed with laparoscopy in 4 children. The other 2 children were treated with conservative therapy. In these 2 patients, a sonographic follow-up was performed, showing a progressive reduction in size of the right-sided hyperechoic mass. In conclusion, our study suggests that the presence of the "tethered fat sign" may be an accurate sonographic sign for non-invasive diagnosis of omental infarction in children.