scholarly journals A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy

2021 ◽  
pp. 838-845
Author(s):  
Naoto Komada ◽  
Toshinari Fujiwara ◽  
Hideyuki Yoshizumi ◽  
Hiroyuki Ida ◽  
Kazuya Shimoda
Keyword(s):  
Gaucher Disease ◽  
Japanese Patient ◽  
Clinical Laboratory ◽  
Genetic Disorder ◽  
Laboratory Data ◽  
Disease Patient ◽  
Oral Drug ◽  
Activity Measurement ◽  
Medical Checkup ◽  
Enzyme Replacement

Gaucher disease is a rare genetic disorder caused by the deficiency of acid β-glucosidase to effectively catalyze the degradation of glucosylceramide to glucose and ceramide. We report here the case of a 31-year-old male Japanese patient with Gaucher disease who switched from enzyme replacement therapy (ERT) to substrate reducing therapy (SRT). Liver dysfunction was identified at a routine medical checkup, and the patient was referred to our hospital with “idiopathic liver disease.” Clinical laboratory tests indicated thrombocytopenia and splenomegaly, which are characteristic symptoms of Gaucher disease. To definitively diagnose Gaucher disease, a bone marrow biopsy and acid β-glucosidase activity measurement were conducted; the results supported a diagnosis of Gaucher disease. This case emphasizes that it is possible for periodic medical checkups in adults to lead to the diagnosis of rare genetic disorders. The patient underwent ERT treatment with imiglucerase for 5 years; the platelet count rapidly increased and the spleen size rapidly decreased, indicating a good response to the drug. However, the patient increasingly felt the burden of visiting the hospital for 2 h of infusion ERT every 2 weeks. Consequently, it was jointly decided that he should switch from ERT to SRT with an oral drug. This switch was successful with no deterioration of laboratory data. This case report is the first to describe a Japanese Gaucher disease patient treated with eliglustat for >2 years. We showed that SRT is a well-tolerated and effective option for the treatment of Gaucher disease.

scholarly journals Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist

2018 ◽  
Vol 14 (1) ◽  
pp. 50
Author(s):  
Maria-Domenica Cappellini ◽  
Elena Cassinerio ◽  
Irene Motta ◽  
William Morello ◽  
Jesús Villarubia
Keyword(s):  
Gaucher Disease ◽  
Clinical Symptoms ◽  
Genetic Disorder ◽  
Diagnostic Delay ◽  
Screening Tools ◽  
Substrate Reduction Therapy ◽  
Lysosomal Storage ◽  
Ashkenazi Jews ◽  
Enzyme Replacement

Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews. The majority of patients with GD present with unexplained splenomegaly and/or thrombocytopenia, and the disorder often affects children; consequently, haematologists and paediatricians are ideally placed to diagnose this condition. Prompt management of GD type 1 using enzyme-replacement therapy or substrate reduction therapy can reduce the risk of developing long-term GD complications and reverse many of the initial signs/symptoms, thereby improving both quality and duration of life. Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential. Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years. Reasons for the delay include the heterogeneous nature of the disease, together with a lack of awareness of rare haematological disorders and the benefits of early treatment. Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia. To help raise awareness of GD, reduce the diagnostic delay and prevent unnecessary tissue biopsies, simple diagnostic algorithms and screening tools have been developed and validated, both in adults and in children.

scholarly journals Gaucher Disease: Case Report

2021 ◽  
Keyword(s):  
Gaucher Disease ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Lysosomal Storage ◽  
Enzyme Replacement ◽  
Disease Case ◽  
Gaucher Disease Type 1 ◽  
The Common

Gaucher disease is the most common lysosomal storage disease. It is marked by deficient glucocerebrosidase enzyme activity, leading to elective accumulation of its substrate in the lysosomes of macrophages. Macrophages are most often deposited in the liver, spleen and bone marrow, creating typical symptomatology in these organs. It is a genetic disorder with autosomal recessive inheritance pattern. The extent of the damage and severity of the symptoms increase in proportion to the genetic damage in the culprit gene, GBA1. As a result, the symptoms and course of the disease may range from mild to quite acute, with potential death of the patient at a young age. Case: Patient, 29, was diagnosed with Gaucher disease type 1 and underwent enzyme replacement therapy, with satisfactory response. Along with the common symptoms of the disease, he had also developed the rare Erlenmeyer flask deformity.

A STUDY OF HEPATITIS B VIRUS GENOTYPES IN CHRONIC HEPATITIS B PATIENTS

2011 ◽  
pp. 25-29
Author(s):  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Clinical Laboratory ◽  
Laboratory Data ◽  
Hbv Dna ◽  
Hbv Genotypes ◽  
B Virus ◽  
Virus Genotypes ◽  
Genotype C

Aims: To measure the prevalence of HBV genotypes in chronic hepatitis B patients and their relation to HBeAg and HBV DNA level. Methods: 81 patients were enrolled in this study from January 2009 to December 2010. Clinical, laboratory data were collected during the patient’s hospitalization. Sera were quantitatively tested for HBeAg and HBV DNA. HBV genotyping was made by real-time PCR. Results: Among the 81 patients, 60.5% had genotype B, 26.7% had genotype C and 8.6% had mixed genotype B-C. Prevalence of symptoms (fatigue, anorexia, insomnia...) was higher in genotype C than in genotype B. Genotype C patients had positivity higher HBeAg than genotype B patients (56% vs. 38,8%, p <0.05). The rate of HBV DNA > 107 copies/mL was higher in genotype C group than in genotype B group (36% vs. 28,6%, p > 0.05). Conclusions: Most of the patients had genotypes B or C. Patients with genotype C had positive HBeAg and may be related to higher serological HBV DNA level than in genotype B.

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

scholarly journals Analyses of longitudinal, hospital clinical laboratory data with application to blood glucose concentrations

2011 ◽  
Vol 30 (27) ◽  
pp. 3208-3220 ◽  
Author(s):  
Jonathan S. Schildcrout ◽  
Sebastien Haneuse ◽  
Josh F. Peterson ◽  
Joshua C. Denny ◽  
Michael E. Matheny ◽  
...  
Keyword(s):  
Blood Glucose ◽  
Clinical Laboratory ◽  
Laboratory Data ◽  
Blood Glucose Concentrations

scholarly journals The association between clinical laboratory data and chest CT findings explains disease severity in a large Italian cohort of COVID-19 patients

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Simone Canovi ◽  
◽  
Giulia Besutti ◽  
Efrem Bonelli ◽  
Valentina Iotti ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Laboratory Data ◽  
Organ Damage ◽  
Cross Sectional Study ◽  
Chest Ct ◽  
Arterial Oxygen ◽  
Emergency Rooms ◽  
Cross Sectional ◽  
Ct Findings ◽  
Patient Prognosis

Abstract Background Laboratory data and computed tomography (CT) have been used during the COVID-19 pandemic, mainly to determine patient prognosis and guide clinical management. The aim of this study was to evaluate the association between CT findings and laboratory data in a cohort of COVID-19 patients. Methods This was an observational cross-sectional study including consecutive patients presenting to the Reggio Emilia (Italy) province emergency rooms for suspected COVID-19 for one month during the outbreak peak, who underwent chest CT scan and laboratory testing at presentation and resulted positive for SARS-CoV-2. Results Included were 866 patients. Total leukocytes, neutrophils, C-reactive protein (CRP), creatinine, AST, ALT and LDH increase with worsening parenchymal involvement; an increase in platelets was appreciable with the highest burden of lung involvement. A decrease in lymphocyte counts paralleled worsening parenchymal extension, along with reduced arterial oxygen partial pressure and saturation. After correcting for parenchymal extension, ground-glass opacities were associated with reduced platelets and increased procalcitonin, consolidation with increased CRP and reduced oxygen saturation. Conclusions Pulmonary lesions induced by SARS-CoV-2 infection were associated with raised inflammatory response, impaired gas exchange and end-organ damage. These data suggest that lung lesions probably exert a central role in COVID-19 pathogenesis and clinical presentation.

scholarly journals Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Marco Cattalini ◽  
◽  
Sara Della Paolera ◽  
Fiammetta Zunica ◽  
Claudia Bracaglia ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Clinical Laboratory ◽  
Troponin T ◽  
Inflammatory Diseases ◽  
Age At Onset ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Chi Square ◽  
Pediatric Society ◽  
Multicenter Survey

Abstract Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p < 0.0001). SARS-CoV-2 assay more often resulted positive in KCG than in KDG (75,5% vs 20%; p < 0.0001). Short-term follow data showed minor complications. Comparing KDG with a KD-Historical Italian cohort (598 patients), no statistical difference was found in terms of clinical manifestations and laboratory data. Conclusion Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths.

scholarly journals Moraxella lacunata infection accompanied by acute glomerulonephritis

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 962-967
Author(s):  
Nami Sawada ◽  
Tamaki Morohashi ◽  
Tomokazu Mutoh ◽  
Tsukasa Kuwana ◽  
Junko Yamaguchi ◽  
...  
Keyword(s):  
Clinical Laboratory ◽  
Case Reports ◽  
Laboratory Data ◽  
Inflammatory Cells ◽  
Final Diagnosis ◽  
Renal Tissue ◽  
Acute Glomerulonephritis ◽  
Pathological Findings ◽  
Complement Activity ◽  
Moraxella Lacunata

AbstractMoraxella lacunata (M. lacunata) is a Gram-negative bacterium, which rarely causes serious infection. This is a rare case report of acute glomerulonephritis diagnosed by pathological findings in a child accompanied by M. lacunata infection. The patient showed hematuria, proteinuria and hyperkalemia requiring emergency hemodialysis. After hospitalization, M. lacunata bacteremia became apparent. Pathological findings showed an increase in glomerulus inflammatory cells and glomerular C3 deposition was observed in the renal tissue biopsy. Final diagnosis was endocapillary proliferative glomerulonephritis. Clinical reports of M. lacunata infection requiring emergency hemodialysis in children are rare. Previous reports have suggested that lowered immune competency with chronic kidney disease may be a risk factor associated with serious invasive cases of M. lacunata infection. However, detailed clinical laboratory data and pathological findings have not been identified in previous case reports. Our case directly indicated complement activity and acute glomerulonephritis with M. lacunata infection. Although there are various causes for acute glomerulonephritis, infection-related glomerulonephritis (IRGN) is an important concept. M. lacunata infection might have a potential risk for IRGN with dysregulation of complement activity leading to serious and invasive clinical conditions than previously considered.

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