The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of 1) hypoglycosylation findings, 2) distribution of protein variants, 3) misguiding rare Tf variants found in our set, and 4) association of some phenotypes with various diseases.

Human transferrin (Tf) shows genetic polymorphisms, which may interfere in the screening of congenital disorders of glycosylation (CDG). Isoelectric focusing followed by direct immunofixation was used for Tf analysis in controls and several groups of patients. Equivocal results in one case have been recognized as a rare Tf CD variant. A higher incidence of some genetic variants has been reported in connection with certain diseases; of the seven Tf phenotypes detected in our set of samples, an apparently higher frequency of Tf C1C2 variant found in some groups of patients was not significant.

References RENAL VEIN THROMBOSIS WITH PULMONARY EMBOLISM: FIRST MANIFESTATION OF LUPUS NEPHRITISSystemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect almost any organ system, with renal involvement occurring in 90% of patients, while 50% of patients already have renal involvement at diagnosis. 1,2 Venous or arterial thrombosis can occur in SLE either as a result of anti-phospholipid syndrome or as a result of hypercoagulable state, related to nephrotic syndrome. 1,[3][4][5][6][7] The risk factors for thromboembolic complications include hypoalbuminaemia, proteinuria, low plasma anti-thrombin-III (AT-III), increased fibrinogen level, hypofibrinolysis, decreased functional activity of protein C and its cofactor protein S, high haematocrit, thrombocytosis, increased platelet aggregation, hyperlipidaemia and reduced plasma volume.1,3-7 An 11-year-old girl was admitted for a 2 months' history of fatigue and shortness of breath, and exercise-induced dyspnoea, headache and myalgia that occurred within the last 2 weeks. Three months prior to admission, there was a transient oedema of lower extremities. Her height was 141 cm (-1.2 standard deviation (SD) ), weight was 29 kg (-1.4 SD) and body mass index was 14.6 (-1.2 SD); she presented with normal respiratory rate of 20/min, tachycardia (heart rate 111/min), elevated blood pressure (141/88 mm Hg), pallor, oedema of eyelids and lower extremities, and left flank pain with loin tenderness on palpation. Laboratory findings revealed anaemia: red blood cells 2.89 ¥ 10 12 /L (normal 4.10-5.10 ¥ 10 12 /L) and haemoglobin 7.6 g/dL (normal 11.5-15.5 g/ dL . Anti-phospholipid antibodies were negative. Concerning hepatitis B and C status, hepatitis B surface antigen (HBsAg) and antibodies against hepatitis C (anti H-CV) antibodies were negative. There was mild hyperimmunoglobulinaemia (immunoglobulin (IgG) 22.9 g/L; normal 8.4-22.4 g/L) with elevated circulating immune complexes of 63 IU/L (normal <50 IU/L). C3 complement was in the normal range; C4 complement was low (0.13 g/L; normal 0.15-0.4 g/ L). Renal biopsy was performed on day 4, resulting in the histological diagnosis of membranous nephropathy. Immunofluorescence on renal biopsy was positive in all IgG classes and C3 at the basal membrane with negative fibrinogen. Arthritis was diagnosed on magnetic resonance imaging of the joints. Therefore, the girl had severe nephrotic syndrome with left RVT and bilateral pulmonary embolism, and she fulfilled 6 criteria for the diagnosis of SLE (polyserositis, nephropathy, arthritis, haemolytic anaemia and leukopenia, positivity of anti-Smith antibodies and positivity of anti-nuclear antibodies) of 11. 2,3Anti-thrombotic, immunosupressive and supportive therapy were started. She received low-molecular weight heparin (LMWH) 150 IU/kg/day for 3 weeks, three intravenous methylprednisolone pulses (30 mg/kg) followed by seven intravenous cyclophosphamide pulses (750-1000 mg/m 2 ) every 3-4 weeks, and further maintenance therapy with azathioprine (2 mg/kg/day) and...

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome.

BackgroundCyclophosphamide (CYC) has been a mainstay in the treatment of severe childhood primary systemic vasculitis. Although major organ involvement is rare in IgA vasculitis (IgAV), CYC is among therapeutic options in moderate and severe IgAV nephritis.(1) No specific recommendations are available for cerebral vasculitis of IgAV.ObjectivesTo describe disease course and treatment response in 2 patients with severe IgAV with CNS and renal involvement.MethodsCase reports with disease assessments using Paediatric Vasculitis Activity Score (PVAS).(2)ResultsBoth children were Caucasian boys with unremarkable previous history aged 4 (Patient 1) and 8 (Patient 2) years. In both cases the initial typical presentation included purpura and abdominal pain in both, arthritis in Patient 1 and haematuria in Patient 2. After 2 weeks of prednisone therapy for severe gastrointestinal (GIT) symptoms Patient 1 was admitted for right-sided weakness and facial palsy. His brain MRI revealed an ischaemic lesion. His PVAS reached 21/63 for skin, abdominal, renal (haematuria) and CNS systems. When Patient 2 was admitted for abdominal symptoms he developed a focal epileptic paroxysm. His brain MRI was compatible with cerebral vasculitis. His nephritic-nephrotic syndrome prompted renal biopsy showing mesangioproliferative nephritis with IgA deposits. His PVAS was 27/63 for skin, abdominal, renal (hypertension, haematuria, proteinuria) and CNS systems. Both patients received 3 doses of intravenous methylprednisolone 30 mg/kg followed by oral prednisone 1 mg/kg with subsequent tapering and 3 doses of CYC 500mg/m2(monthly i.v.). At follow-up 3 months after the 1st CYC dose both patients fully recovered neurologically. Patient 2 was on prednisone (0.2 mg/kg) and ACE inhibitor and his urine was negative for the first time, PVAS=0. Patient 1 had been developing significant proteinuria during prednisone withdrawal and his PVAS counted 10/63 for renal disease. Prednisone was re-instituted and ACE inhibitor added while renal biopsy has been pending.ConclusionIn both cases therapy with corticosteroids and CYC led to the full recovery of CNS disease but did not prevent progression of nephritis in Patient 1. Response of Patient 2 nephritis to CYC appeared satisfactory at 3 months visit but would require confirmation after full prednisone withdrawal. Although generally benign, when IgAV presents with major organ involvement its treatment is challenging. Further research is needed in order to gather better evidence to support treatment recommendations.References[1] özen S, et al. Europen consensus-based recommendations for diagnosis and treatment of IgA vasculitis – the SHARE initiative. Rheumatology (Oxford) 2019, in print[2] Doležalová P, et al. Disease activity assessment in childhood vasculitis: development and preliminary validation of the Paediatric Vasculitis Activity Score (PVAS). Ann Rheum Dis 2013 72(10):1628-33Disclosure of InterestsNone declared