Helen Georgouli

Effects of anticonvulsant therapy on vitamin D status in children : Prospective monitoring study

Reports of hypovitaminosis D associated with anticonvulsant drugs in pediatric patients are conflicting. The effects of carbamazepine or sodium valproate on vitamin D status were evaluated prospectively in 51 ambulatory epileptic children who were followed during the first year of the study and in 25 and 6 children during the second and third year, respectively. Serum 25-hydroxyvitamin D, parathyroid hormone, calcium, and phosphorus levels were determined before and every 3 months during anticonvulsant therapy. Our subjects were grouped into four classes (0, 1, 2, and 3 consisted of the patients before and during the first, second, and third years of the treatment, respectively). The control group consisted of 80 healthy children. Comparisons between controls and patients of class 0 for the means for each season of all variables showed no significant differences. A decreasing trend in serum 25-hydroxyvitamin D (P < .03) and an increasing trend in serum parathyroid hormone (P < .04) levels were noticed in all seasons from class 0 to class 3. Twenty-five patients (49%) acquired hypovitaminosis D during the study period. The effects of seasonality on serum 25-hydroxyvitamin D, parathyroid hormone, and calcium were noticed in our patients grouped in classes 0, 2 and 3, as well as in controls. Evidence is provided that carbamazepine or sodium valproate can cause hypovitaminosis D in children. (J Child Neurol 2006; 21:205—209; DOI 10.2310/7010.2006.00050)

Family Pattern of Idiopathic Hypercalciuria and its Subtypes

PURPOSE We determined the mode of inheritance of idiopathic hypercalciuria and its subtypes. MATERIALS AND METHODS We evaluated 40 children with symptomatic idiopathic hypercalciuria and 129 of their first-degree relatives (80 parents and 49 siblings). In hypercalciuric individuals in families with at least 2 affected members the type of idiopathic hypercalciuria was determined by the calcium loading test. RESULTS Of the 40 affected children 19 (47.5%) had 1 or more affected first-degree relatives (23 of 80 parents and 2 of 49 siblings). In all 44 affected members of the 19 hypercalciuric families (19 index cases, 23 parents and 2 siblings) the type of idiopathic hypercalciuria was determined (absorptive in 38 and renal in 6). Study of the pedigree of the 19 families showed that idiopathic hypercalciuria appears to be transmitted as an autosomal dominant trait. With only 1 exception the subtype of disease was specific for members of the same family. CONCLUSIONS Idiopathic hypercalciuria has a familial or sporadic pattern. In the familial pattern an autosomal dominant inheritance is present. The type of the disease is identical in affected members of the same family. The absorptive subtype is more frequent.

Calcium and Vitamin D Metabolism in Hypocalcemic Vitamin D-Resistant Rickets Carriers

Background/Aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare monogenic autosomal recessive disorder associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)2D3 action. Although many investigations have discussed the clinical manifestations and molecular etiology of this disease, only a few have investigated the biochemical and hormonal status of heterozygous HVDRR. The aim of the current work was to investigate the profile of selected biochemical and hormonal parameters related to the vitamin D endocrine system in a large number of HVDRR heterozygotes. Methods: 67 relatives of 2 HVDRR patients, all members of an extended Greek kindred of five generations with a common ancestor, were included in the study. Direct sequencing was used to identify VDR gene mutations. Serum Ca, P, 25(OH)D, iPTH, and 1,25(OH)2D levels were determined in all members of the kindred. Results: DNA analysis of the participants led to the design of two study groups: the HVDRR carriers (24) and the control subjects (43). Our results showed elevated circulating serum levels of 1,25(OH)2D3 and lower levels of PTH than their age- and sex-matched controls. No hypocalcemia or hypophosphatemia were detected in HVDRR carriers. Conclusions: Our findings suggest that HVDRR carriers may have compensatory elevated serum levels of 1,25(OH)2D3 through which they restrain PTH secretion. The study of HVDRR carriers could be a useful tool for the investigation of the vitamin D endocrine system.

Endothelin-1 in children with acute poststreptococcal glomerulonephritis and hypertension

Abstract Background : Endothelin‐1 (ET‐1), the most potent vasoconstrictor peptide, is known to play a role in arterial hypertension. In patients with acute poststreptococcal glomerulonephritis (APSGN) an increase in the production of ET‐1 is suspected due to damaged endothelium, platelet activation and increased thrombin production in the glomeruli. The aim of the present study was to investigate whether the levels of plasma ET‐1 are elevated in children with APSGN. Furthermore, we examined the association between plasma ET‐1 levels and blood pressure levels in the same children.

Invasive meningococcal disease presenting as Henoch-Schonlein purpura.

Henoch-Schönlein purpura (HSP) is an acute systemic form of vasculitis that has been associated with a number of viral and bacterial infections. Described here are the cases of two children with invasive meningococcal disease who presented with clinical and laboratory findings typical of HSP. Meningococcal infection may have been the trigger for the manifestation of HSP in these patients.

Incomplete Kawasaki disease with intermittent fever and retropharyngeal inflammation.

Kawasaki disease is a systemic vasculitis of unknown etiology, presenting typically in infants and young children. We report a rare case of incomplete Kawasaki disease in a 15-month-old male infant presenting with symptoms mimicking retropharyngeal abscess and intermittent fever.

Hypercalciuria in children with febrile convulsions

Abstract 
 Background : The purpose of the present study was to investigate whether idiopathic hypercalciuria may be implicated in the pathogenesis of febrile convulsions.

Deep vein thrombosis and pulmonary embolism in a child with diabetic ketoacidosis and protein s deficiency: a case report.

Introduction: Diabetic ketoacidosis (DKA) is considered a hypercoagulable state, which may be exacerbated in patients with thrombophilia and lead to thrombosis. Case Report: We report on a 5.5-year-old boy, who was admitted to the pediatric department with DKA due to newly diagnosed type 1 diabetes. Low-grade fever was reported for 6 days prior to admission and continued during DKA management, with negative septic screening. After DKA management, the child developed symptoms of iliofemoral deep vein thrombosis (DVT). A family history of protein S (PS) deficiency was revealed. He was initially treated intravenously with antibiotics and unfractionated heparin, which, after 2 days, was switched to low-molecular-weight heparin and vitamin K antagonist (VKA) due to poor anticoagulant response. On the 6th day of anticoagulant treatment, the patient presented with pulmonary embolism (PE); he continued with VKA and antibiotics, with significant clinical improvement. Prolonged fever was attributed to DVT and PE. The patient was discharged on oral anticoagulants and insulin. Conclusion: We report on a child with congenital PS deficiency and DKA who developed DVT and PE despite anticoagulant treatment. It is important in children presenting with DKA to seek thoroughly for a medical history of thrombophilia and to start early thromboprophylaxis in such cases in order to prevent a possible thrombosis.

Serum hepcidin and ferritin to iron ratio in evaluation of bacterial versus viral infections in children: a single-center study.

Background: Differential diagnosis of childhood infections is important. Several biochemical indices steer diagnosis toward bacterial agents, although the data are often not definitive. Hepcidin is a central component of blood iron, and ferritin alterations occur during infections. We measured hepcidin changes and evaluated ferritin to iron ratio (FIR) in patients with suspected infections. Methods: We studied 69 children with infection and an equal number of matched controls during a 3-year period. A bacterial agent was demonstrated in 17 and a viral pathogen in 52 of the patients. Hematologic and biochemical tests were performed on all children including ferritin, iron and hepcidin. FIR was calculated and receiver operating characteristic curve analysis was performed to evaluate the best FIR cutoff value to discriminate between patients and controls and between patients with bacterial infections and viral infections. Results: Hepcidin, ferritin and FIR were significantly higher and iron values significantly lower in febrile patients than its controls. Patients with bacterial infection had significantly lower iron and higher FIR than those with viral infection. FIR had high accuracy discriminating patients from controls but only moderate accuracy discriminating bacterial from viral infected patients. Conclusions: If further studies with larger samples confirm these observations, FIR could be used as an inexpensive, rapid and easily performed complementary index for diagnosis of bacterial infections.

Vitamin D Receptor Polymorphisms in Hypocalcemic Vitamin D-Resistant Rickets Carriers

Background/Aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, secondary hyperparathyroidism, elevated levels of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], and occasionally, alopecia. In most cases, the disease is associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)2D3 action. The apparently healthy HVDRR heterozygotes express both normal and mutant VDR alleles, and they present higher levels of 1,25(OH)2D3 than their respective controls. Because VDR function, except for the disease-causative mutations, might be influenced by the presence of certain polymorphisms, we investigated the distribution of four common VDR polymorphisms – BsmI, ApaI, TaqI and FokI – in HVDRR carriers compared with their respective controls. Methods: Sixty-seven relatives of 2 HVDRR patients, all members of an extended Greek kindred, were included in the study. VDR allelic polymorphisms were assessed by restriction fragment length polymorphisms after specific polymerase chain reaction amplification. Results: The distribution of genotypic and allelic frequencies differed between HVDRR carriers and their respective controls regarding BsmI and TaqI polymorphisms. The bb genotype and the T allele (presence of BsmI and absence of TaqI polymorphisms) were less frequent in the HVDRR carrier group than in the control group in a statistically significant manner (p = 0.029 and p = 0.025, respectively). Conclusions: Our findings showed that the apparently healthy HVDRR carriers present a different distribution of BsmI and TaqI VDR polymorphisms than their controls, suggesting that further investigation of the HVDRR carrier population may elucidate the implication of VDR alleles in VDR function and the vitamin D endocrine system.