How important urolithiasis is under 2 years of age?

Urolithiasis (UL) is a common health problem in the world and the observed incidence of this disease is increasing in the infantile period. The study included cases of UL diagnosed before the age of two who had a comprehensive analysis for possible etiologic variables and were followed for a minimum of 6 months. Of the 60 patients included in the study, 37 were male, and the male/female ratio was 1.6. The average age at diagnosis is 8.5 ± 4.5 months. Of the cases diagnosed 41 (68.3%) were before than 1 year of age. The average time for follow-up is 28.9 ± 22.6 months. There was a family history of stone disease in 41 (68.3%) cases. Twenty-four (40%) patients were treated for dehydration at least once before stone disease was identified. The number of patients presenting with symptoms is 43 (71.7%). Restlessness was noted as the main symptom. In 17 (28.3%) patients, stone disease was found incidentally. Metabolic causes (n: 19, 31.6%) were determined to be the most common underlying cause, followed by UTI-related causes (n: 12, 20%). During the follow-up, 57 (64%) of the stones spontaneously disappeared. The size of 16 (18%) stones reduced, while the size of eleven remained same (13%). Following their absence, nine (15%) of the stones reappeared. The essential strategy is to identify high-risk groups, to closely monitor them, and to take preventative interventions against modifiable conditions such as dehydration if possible.

Bismuth intoxication resulting in acute kidney injury in a pregnant adolescent girl.

Çelebi-Tayfur A, Yaradilmis RM, Ulus F, Çaltik-Yilmaz A, Özayar E, Kosar B, Büyükkaragöz B, Horasanli E. Bismuth intoxication resulting in acute kidney injury in a pregnant adolescent girl. Turk J Pediatr 2019; 61: 292-296. Bismuth intoxication is a rare cause of acute kidney injury (AKI) and is usually reversible by appropriate therapeutic measures. We present here a case of an adolescent pregnant girl who developed AKI due to an overdose of colloidal bismuth subcitrate (CBS, total amount of 6 g). She received parenteral chelating agent dimercaprol for 14 days. Continuous venovenous hemodiafiltration (CVVHD) with high-flux membrane was carried out in the first 3 days of chelating therapy and intermittent hemodialysis for 11 days, thereafter. The patient recovered clinically and was discharged after 21 days. She gave birth to a healthy term boy. At the last visit, the baby was 6 months old with normal growth and development as well as normal kidney functions. Neither deterioration in renal functions nor emergence of proteinuria was recorded in the patient during follow-up care after hospital discharge. In cases of AKI due to an overdose of CBS, treatment with dimercaprol combined with high flux hemodiafiltration and subsequently hemodialysis appears to be both useful and safe for bismuth elimination.

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions. Methods: The proband was the third off-spring of non-consanguineous parents and had polyuria (4.3 L/day), polydipsia (5 L/day). The diagnosis of CNDI was established by a water-deprivation test and a desmopressin challenge test. Genetic studies were also carried out in the mother, siblings and affected family members, since excessive fluid intake and diuresis were also reported in these individuals. All exons of the AVPR2 gene for all participants were amplified and sequenced. Bioinformatics analysis for wild-type and mutant AVPR2 were obtained with Swiss-Model and UCSF Chimera 1.10.2. Results: A novel, hemizygous, missense mutation was identified at the position 80th in exon 2 (p.H80Y) of AVPR2 in the proband. The proband's mother, maternal aunt and grandmother were heterozygous and his maternal uncle was hemizygous for this mutation. Bioinformatic analysis indicates this mutation would cause significant conformational changes in protein structure. Conclusion: p.H80Y mutation will cause inappropriate folding of the protein compromising water homeostasis via AVPR2 and AVP and leading to diabetes insipidus. We suggest that future functional investigations of the H80Y mutation may provide a basis for understanding the pathophysiology of the NDI in patients with this variant.

Causative pathogens and antibiotic resistance in children hospitalized for urinary tract infection.

BACKGROUND: Urinary tract infections (UTI) are one of the most common bacterial infections in children and a major cause of hospitalization. In this study we investigated the clinical characteristics, causative uropathogens; their antibiotic susceptibility and resistance patterns, treatment modalities and efficacy in children hospitalized for UTI in a tertiary care setting. METHODS: Patients hospitalized for an upper UTI between March 2009 and July 2014 were enrolled. The urine culture-antibiogram results and accompanying urinary tract abnormalities were recorded retrospectively. RESULTS: A total of 142 patients (104 girls, 73.2%; 38 boys, 26.8%) were enrolled. Mean patient age was 32.6 ± 4.1 months. History of recurrent UTI was present in 45.8% (n = 65), with prior hospitalization in 12.0% (n = 17). Frequency of vesicoureteral reflux was 18.3% (n = 26). Gram-negative enteric microorganisms yielded growth in all culture-positive UTI and the most common microorganism was Escherichia coli (n = 114, 80.3%). Extended spectrum beta-lactamase-producing (ESBL (+)) bacterial strains were detected in 49.3% (n = 70), with third-generation cephalosporin resistance in all and increased duration of hospitalization. CONCLUSIONS: The prevalence of UTI with ESBL (+) bacterial strains with multi-drug resistance is increasing in the hospitalized pediatric population, therefore rational use of antibiotics is essential.

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous p.Ala788Asp mutation in exon 22 of the OCRL gene. They presented with diverse features of selective proximal renal tubular defect and high serum levels of total cholesterol, low density lipoprotein cholesterol (LDL-C) and high density lipoprotein cholesterol (HDL-C).

Different presentations in patients with tumor necrosis factor receptor-associated periodic syndrome mutations: report of two cases.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. It is characterized by recurrent prolonged episodes of fever accompanied by abdominal pain, pleuritis, migratory skin rashes, fasciitis, headache, conjunctivitis, and periorbital edema. We report two children, one with a severe mutation in the TNFRSF1A gene causing the typical phenotype. The second patient had a homozygous R92Q-type mutation and displayed a periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome-like phenotype. In the eastern Mediterranean region, TRAPS is probably underdiagnosed because of the overwhelming frequency of familial Mediterranean fever (FMF). However, TRAPS should be sought for in patients with atypical symptoms for FMF.

Conus medullaris syndrome and acute colonic pseudoobstruction in a child with acute lymphoblastic leukemia.

A 5(3/12)-year-old boy with Philadelphia chromosome (+) pre-B acute lymphoblastic leukemia (ALL) without extramedullary involvement did not achieve remission after induction therapy. His family stopped therapy, but he was readmitted eight months later due to pyoderma, pneumonia and active leukemia with leukocytosis. During cytoreductive and antibiotic therapy, he developed progressive abdominal distension, pain, globe vesicale, tachypnea, and respiratory alkalosis. Bowel sounds could not be auscultated. Dilation, mainly in the large intestine, was detected radiologically. His neurological examination revealed absence of superficial reflexes and hypoesthesia along with normal motor strength and deep tendon reflexes in the lower extremities, consistent with conus medullaris syndrome, which was thought to give rise to acute colonic pseudo-obstruction.

Delayed diagnosis of acute leukemia in a patient with bone pain and fracture.

In childhood acute lymphoblastic leukemia (ALL), non-hematological manifestations involving the musculoskeletal system can also be encountered. These manifestations may cause a delay in the diagnosis of leukemia. The presented case in this report is a six-year-old boy who developed bone pain and long bone fracture and was diagnosed as ALL after a considerable delay. This case is presented to draw attention to the fact that leukemia must be considered in pediatric patients who present with bone manifestations.