Claudia Fede

Vitamin D intoxication in two brothers: be careful with dietary supplements

Abstract Vitamin D (VitD) intoxication, a well-known cause of hypercalcaemia in children, has renal, cardiac and neurological consequences. Iatrogenic or accidental administrations are the most common causes. We present two cases of hypervitaminosis D due to over-the-counter VitD supplement self-medication. A 12-year-old boy was hospitalised for abdominal pain, constipation and vomiting. Routine biochemistry indicated severe hypercalcaemia and renal failure. Plasma 25-OH VitD level was very high and parathyroid hormone was suppressed. Renal ultrasound showed nephrolithiasis. Hydration, diuretics and prednisone induced a progressive reduction of calcium levels. His brother, who was receiving the same treatment, was hospitalised although asymptomatic. Normal serum calcium and renal function were revealed, while 25-OH VitD was high and parathyroid hormone was suppressed. Renal ultrasound was within the normal range. Examination of the VitD content of the over-the-counter supplement revealed a higher amount than declared. VitD administration implies several risks and must be prescribed only when needed and under strict medical control.

High mobility group box 1 and tumor growth factor β: useful biomarkers in pediatric patients receiving peritoneal dialysis

Abstract Background: Peritonitis, the most important limitation of peritoneal dialysis (PD), could be detected by biomarkers in dialysate effluent, representing a noninvasive method to indirectly assess the peritoneum status. The aim of our study was to test high mobility group box 1 (HMGB1) in PD patients, evaluating its role as precocious marker of peritoneum damage during peritonitis. Transforming growth factor (TGF)-β was correlated with peritoneal transport characteristics. Methods: Six patients, treated by ambulatory PD, were enrolled. Samples were collected at the onset of peritonitis (T1) and every day until its resolution (T-end). Serum (s) and peritoneal (p) white blood cell (WBC) count was also evaluated. Peritoneal Equilibration Test evaluated the filter activity of peritoneum. Results: In patients with acute peritonitis, the highest serum and peritoneal HMGB1 values (64 ± 3.6 and 70 ± 5.3 ng/mL, respectively) were assessed, with a progressive decrease of their levels at the resolution time (T-end: sHMGB1:36 ± 2.5; pHMGB1:30.5 ± 7.0 ng/mL). While no differences of sWBC and pWBC were observed between baseline and T-end values, pHMGB1 levels remained higher at T-end than those observed at T0 (pHMGB1:30.5 ± 7.0 versus 6.9 ± 3.6; p < 0.0001). TGF-β levels were higher in patients with low peritoneal permeability than in medium or high transporter patients (81 ± 15.5 versus 24.3 ± 7.5 pg/mL; p = 0.01). An inverse correlation was found between TGF-β levels and dialysate/plasmatic creatinine values (r = −0.83; p = 0.03). Conclusion: HMGB1 represents a useful biomarker for peritoneum evaluation in PD patients. A prognostic role of this alarmin, as a marker of response to therapy, could be hypothesized. TGF-β could predict the peritoneal transport status and dialysis technique adequacy.

AB0638 Risk Factors and Onset of Renal Involvement in Children with Schoenlein Henoch Purpura

Background Henoch-Schöenlein purpura (HSP) is the most common vasculitis in children, characterized by multisystem involvement. Renal complication occurs in 30-40% of HSP children. It is the most serious complication in the chronic outcome. Objectives Objective of the study is to evaluate the possible risk factors of renal complications in our series of children with HSP. Moreover we have tried to determine the time of onset of renal involvement. Methods Retrospective study was conducted in children with HSP in our Department with follow-up of at least 24 months. We evaluated 66 children, 37 males and 29 females. We have considered as risk factors of renal complication the sex, the presence or history of allergy, the joint and intestinal involvement. Results 20/66 HSP children have showed renal involvement (RHSP). RHSP was more frequent in males (14/20: 70%) versus females (6/20: 30%). Among the 46 children without renal involvement 24 (52%) were male and 22 (48%) females. Our data show that the male has greater risk of developing renal complications (OR 2.13; 95% CI 0.69 to 6.54).Average age of onset of vasculitis is 75.5±24 months in the RHSP versus 72.1±33.6 months in HSP without renal involvement. There was no difference in joint (60% versus 63%) and/or bowel (50% versus 41%) involvement between the two groups. Allergic symptoms occurred in 15% of RHSP children versus 29% of HSP children without renal involvement. Renal involvement developed in 30% of cases at onset of HSP; in 60% within 10 days of the diagnosis, and in 90% within 6 months. Only two children had renal complication after 12 and 18 months from diagnosis. Six renal biopsies were performed: 3 at the onset of illness and 3 within ten days from HSP diagnosis. Cutaneous recurrences occurred more frequently in the HSP group without renal involvement (30%) than in RHSP (5%) (OR 8.3; 95% CI 1.01 to 68.33). Conclusions Our data showed that the male is the greater risk factor for renal complications in HSP patients. The renal involvement occurred mostly at onset and in the majority of cases within 6 months. In addition, the renal complication is more severe in the early days of onset of HSP as evidenced by the greater frequency of renal biopsies. We recommended to monitor carefully urine exam in the first 6 months from onset of vasculitis. Cutaneous relapses were rare in patients with RHSP, indicating a different pathogenetic mechanism and phenotypic expression between HSP patients. References Narchi H. Risk of long term renal impairment and duration of follow up recommended for Henoch-Schonlein purpura with normal or minimal urinary findings: a systematic review. Arch Dis Child 2005;90:916–920. Disclosure of Interest None declared

Behçet Disease (BD) in two siblings affected with Familial Mediterranean Fever (FMF)

Their medical history of recurrent fever attacks started at the age of 14 and 6 months respectively. Fever was accompanied by cervical adenopathy, severe exudative pharyngitis, oral aphtosis, abdominal pain and diarrhoea, sometimes with bloody stools. At the age of 10 and 9 years, screening for autoinflammatory disorders was performed revealing a single mutated FMF gene (E148Q). Since they fulfilled Tel Hashomer criteria, colchicine was started.

Efficacy and safety of thalidomide in two sisters with severe refractory polyarteritis nodosa (PAN)

In the older, the presenting symptoms were fever and migrant arthralgias. At onset, she was 6 year old. Laboratory work-up showed increased ESR, CRP, PTL count, and anaemia. Over time she developed ischemic colitis and a transient cerebral ischemic attack. Cerebral Angio MRI revealed multiple periventricular hyperintensities prompting the diagnosis of PAN. Steroids, cyclophosphamide, methotrexate, and azathioprine were unsuccessful, and the disease was complicated by neuropathy and ischemic lesions of several digits. Thalidomide was started in December 2003; since then, the disease is stable and laboratory work up normal. First clinical features of the younger sister occurred at three years of age. She had an acute stroke. Following hypertension, renal disease and neuropathy, PAN was diagnosed. Steroids, azathioprine and cyclophosphamide were given with scarce benefit. After another ischemic cerebrovascular event, thalidomide was effective in controlling the disease activity.

Behçet Syndrome and Hypogonadotropic Hypogonadism: case report

Clinical case A sixteen year old boy presented, three years before, gastrointestinal (abdominal pain, vomiting, diarrhea) and neurologic symptoms (headache, diplopia, ataxia, VI nerve paralysis), with fever, oral and genital aphtosis. Laboratory tests showed increased ESR, CRP). He carried B51HLA. Physical examination showed svere obesity, pseudomicropenis, rare pubic hair, pubertal stage G2P2. Thus BD was diagnosed. Treatment with corticosteroids and antiplatelet agents was started.

Kawasaki disease in Sicily: a 7 year survey

Background Scant reports concerning Kawasaki Disease (KD) in Sicily have been published. Aim: to collect data from a 7-year survey. Methods: the charts of children discharged with the diagnosis of KD since January 2000 to December 2007, from the paediatric Units of 5 tertiary level Hospitals in Sicily were retrospectively reviewed. Data were collected through a questionnaire; gender, age at onset, ancestry, seasonality, ESR, CRP, PTL count, clinical manifestations, medication and cardiac abnormalities during the acute phase and up to 48 month follow-u were recorded. Results: 98 Caucasian children (55 M, 43 F, mean age at onset 36 mths), were diagnosed; 88/98 fulfilled the criteria while 10/98 had the incomplete form. The M: F ratio was 1.3: 1. 85% were children aged 36–40 months and 15% infants. Most cases occurred in August. The typical fever was present in 100%, conjunctivitis and exanthema in 98%, mucositis and extremity changes in 89%, and cervical lymphoadenopathy in 79% of patients. 87/98 pts had received timely IVIG; 4 patients required a second infusion. Cardiac abnormalities developed in 10 pts (6 ectasia and 4 aneurysms) all in the group with delayed therapy; 3/4 were giant aneurysms, all in infants. Three patients in addition to CAA displayed peripheral artery involvement. At 4-yr follow-up all CAA normalized except for 3 giant CAA that regressed to dilatations.

Subclinical aterosclerosis and Kawasaki Disease (KD): results from an e- tracking study of arterial stiffness in a Sicilian population

Background Patients with Kawasaki Disease (KD) may have an increased risk for early atherosclerosis. Arterial stiffness (AS) has recently recognized as a predictor of atherosclerosis. AIM of this study was to evaluate AS in a populations of KD patients (pts). The study was performed by means of E-tracking, a system measuring changes in arterial diameter synchronized with the ECG signal and permitting evaluation of pulse wave propagation velocity in a point of the vascular system.