scholarly journals Game of clones: A case of ELANE gene mutation-related neutrope

2021 ◽  
pp. 24-26
Author(s):  
N Mashigo ◽  
M Esser
Keyword(s):  
Bacterial Infections ◽  
Fungal Infections ◽  
Clinical History ◽  
Full Blood Count ◽  
Congenital Neutropenia ◽  
Cyclic Neutropenia ◽  
History Of ◽  
Low Levels ◽  
Almost All ◽  
Stimulating Factor

Mutations in the ELANE gene, which encodes the neutrophil elastase (NE) protein in neutrophils, result in ELANE-related neutropenia. ELANE-related neutropenia encompasses both cyclic neutropenia (CN) and severe congenital neutropenia (SCN), with ELANE mutations seen in a majority of SCN and almost all of CN patients. Clinical history in affected individuals typically reveals recurrent episodes of fever, oral ulcerations and bacterial as well as fungal infections, correlating with periodic oscillations or chronically low levels in the absolute neutrophil count (ANC). ELANE-related neutropenia is characterised by severely low neutrophil counts where ANCs may drop as low as zero. A two-year-old child presented at our hospital with a longstanding history of recurrent bacterial infections and previous admissions at another centre during some of these infectious episodes. Her full blood count demonstrated a markedly low ANC, which was chronic on assessment of her previous results. Decreased granulopoiesis with maturation arrest was seen on her bone marrow and genetic testing for the ELANE gene demonstrated a pathogenic variant of the mutation. Treatment with granulocyte colony-stimulating factor (G-CSF) was initiated.

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

Blood ◽  
2000 ◽  
Vol 96 (7) ◽  
pp. 2317-2322 ◽  
Author(s):  
David C. Dale ◽  
Richard E. Person ◽  
Audrey Anna Bolyard ◽  
Andrew G. Aprikyan ◽  
Cindy Bos ◽  
...  
Keyword(s):  
Neutrophil Elastase ◽  
Rna Splicing ◽  
Bacterial Infections ◽  
Autosomal Dominant ◽  
Mononuclear Cells ◽  
Mutational Analysis ◽  
Congenital Neutropenia ◽  
Gene Encoding ◽  
Cyclic Neutropenia ◽  
Shwachman Diamond Syndrome

Abstract Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant cyclic neutropenia was mapped to chromosome 19p13.3, and this disease is now attributable to mutations of the gene encoding neutrophil elastase (the ELA2 gene). The authors hypothesized that congenital neutropenia is also due to mutations of neutrophil elastase. Patients with congenital neutropenia, cyclic neutropenia, or Shwachman-Diamond syndrome were referred to the Severe Chronic Neutropenia International Registry. Referring physicians provided hematologic and clinical data. Mutational analysis was performed by sequencing polymerase chain reaction (PCR)-amplified genomic DNA for each of the 5 exons of the neutrophil ELA2 gene and 20 bases of the flanking regions. RNA from bone marrow mononuclear cells was used to determine if the affected patients expressed both the normal and the abnormal transcript. Twenty-two of 25 patients with congenital neutropenia had 18 different heterozygous mutations. Four of 4 patients with cyclic neutropenia and 0 of 3 patients with Shwachman-Diamond syndrome had mutations. For 5 patients with congenital neutropenia having mutations predicted to alter RNA splicing or transcript structure, reverse transcriptase-PCR showed expression of both normal and abnormal transcripts. In cyclic neutropenia, the mutations appeared to cluster near the active site of the molecule, whereas the opposite face was predominantly affected by the mutations found in congenital neutropenia. This study indicates that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropenia.

scholarly journals ASSESSMENT OF CONGENITAL NEUTROPENIA IN CHILDREN: COMMON CLINICAL SCENERIES AND CLUES FOR MANAGEMENT

2022 ◽  
Vol 14 (1) ◽  
pp. e2022008
Author(s):  
Ilaria Lazzareschi ◽  
Elena Rossi ◽  
Antonietta Curatola ◽  
Giovanna Capozio ◽  
Luca Benacquista ◽  
...  
Keyword(s):  
Hematologic Malignancy ◽  
Neutrophil Granulocytes ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Congenital Neutropenia ◽  
Cyclic Neutropenia ◽  
Hematological Diseases ◽  
Neutropenic Patients ◽  
The Many ◽  
Stimulating Factor

A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interest is “cyclic neutropenia”, an ultra-rare disorder revealed by sinusoidal variations of the neutrophil count and periodically-recurring infections every 21 days. Diagnosis of these disorders is frequently obscured by the multiple causes of recurrent fevers in children. Aim of this overview is to outline the physical assessment of children presenting with early-onset symptomatic neutropenia, identify the disease between the many medical conditions and even emergencies which should enter in differential diagnosis, hint at the potential management with granulocyte-colony stimulating factor, define the risk of evolution to hematologic malignancy, and summarize inter-professional team strategies for improving care coordination and outcomes of such patients.

scholarly journals Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia

Blood ◽  
1990 ◽  
Vol 75 (5) ◽  
pp. 1056-1063 ◽  
Author(s):  
K Welte ◽  
C Zeidler ◽  
A Reiter ◽  
W Muller ◽  
E Odenwald ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Severe Neutropenia ◽  
Colony Stimulating Factor ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Macrophage Colony Stimulating Factor ◽  
The Absolute ◽  
Macrophage Colony ◽  
Neutrophil Response ◽  
Stimulating Factor

Abstract Severe congenital neutropenia (SCN) is a disorder of myelopoiesis characterized by severe neutropenia secondary to a maturational arrest at the level of promyelocytes. We treated five patients with SCN with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) for 42 days and subsequently, between 1 and 3 months later, with rhG-CSF for 142 days. The objective was to evaluate the safety and ability of these factors to elicit a neutrophil response. rhGM-CSF was administered at a dose of 3 to 30 micrograms/kg/d (30 to 60 minutes, intravenously). In all patients, a specific, dose-dependent increase in the absolute granulocyte counts was observed. However, in four patients this increase was due to an increase in eosinophils, and in only one patient it was due to an increase in the absolute neutrophil counts (ANC). Subsequently, all patients received rhG-CSF at a dose of 3 to 15 micrograms/kg/d subcutaneously. In contrast to rhGM-CSF treatment, all five patients responded to rhG-CSF during the first 6 weeks of treatment with an increase in the ANC to above 1,000/microL. The level of ANC could be maintained during maintenance treatment. In one patient, the increase in ANC was associated with an improvement of a severe pneumonitis caused by Peptostreptococcus and resistant to antibiotic treatment. No severe bacterial infections occurred in any of the patients during CSF treatment. All patients tolerated rhGM-CSF and rhG-CSF treatment without severe side effects. These results demonstrate the beneficial effect of rhG-CSF in SCN patients.

scholarly journals Comparative Analysis of the Serological Reactivity of Individuals with Clinical History of Malaria using Two Different ELISA Tests

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 168
Author(s):  
Yorleydy Ruiz Moreno ◽  
Silvia Tavares Donato ◽  
Fátima Nogueira ◽  
Marcelo Sousa Silva
Keyword(s):  
Clinical History ◽  
Negative Control ◽  
Enzyme Linked Immunosorbent Assay ◽  
Serological Response ◽  
Serum Samples ◽  
Serological Tests ◽  
Serological Reactivity ◽  
History Of ◽  
Low Levels ◽  
Antigenic Reactivity

Early diagnosis of malaria reduces disease, prevents deaths, and contributes to decreased malaria transmission. The use of specific and sensitive antigens in the execution of serological diagnostics may have an impact on the transmission of the disease. However, many individuals cannot be easily diagnosed by serological tests due to low levels of antibodies in the serum. Using two different Enzyme-Linked Immunosorbent Assay (ELISA) tests (a commercial and an in-house ELISA), a total of 365 serum samples from individuals with a clinical history of malaria were analyzed. From the serum samples analyzed, 192 (53%) samples from the commercial ELISA and 219 (60%) samples from the in-house ELISA presented positive serological reactivity to malaria. The concordance of the samples tested (n = 365) between both ELISAs was of 67% (n = 242), and with the negative control was 100% (n = 17). We demonstrated that the in-house ELISA showed high antigenic reactivity to Plasmodium falciparum antigens when compared with the commercial ELISA. The degree of concordance of both ELISAs suggested the possibility of existence of other P. falciparum antigens present in the crude extract of P. falciparum that are important in the serological response during malaria infection.

PREGNANCY OUTCOME In GENETIC Subtypes of CONGENITAL Neutropenia

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4722-4722
Author(s):  
Cornelia Zeidler ◽  
Beate Brand ◽  
Ulrike A.H. Grote ◽  
Anna Nickel ◽  
Karl H. Welte
Keyword(s):  
Bacterial Infections ◽  
Conflicts Of Interest ◽  
Clinical Phenotype ◽  
Infectious Complications ◽  
Current Data ◽  
Congenital Neutropenia ◽  
Cyclic Neutropenia ◽  
Live Births ◽  
Genetic Subtypes ◽  
Chronic Neutropenia

Abstract Abstract 4722 Severe congenital neutropenia (CN) comprises a heterogeneous group of disorders with a common hematological and clinical phenotype characterized by a maturation arrest of myelopoiesis at the level of the promyelocyte / myelocyte stage with peripheral blood absolute neutrophil counts (ANC) below 0.5 ′ 109/l and early onset of bacterial infections. Current data on the molecular causes have demonstrated that CN is a multigene disorder with more than 10 genes described to date. Genetic analyses in autosomal dominant and sporadic cases of CN indicate that the majority of these cases are attributable to mutations in the elastase 2 (ELANE) gene encoding neutrophil elastase. However, mutations in the ELANE gene do not discriminate between patients with CN and patients with cyclic neutropenia (CyN). Since 1987, recombinant human Granulocyte-Colony stimulating factor (G-CSF) is available for the treatment of CN. Independent of the genetic subtype, more than 90% of patients respond well to G-CSF with sustained increase of absolute neutrophil counts and prolonged life expectancy. Since our first patients have reached adulthood the desire for parenthood arises. To-date there is only limited data on the infectious risk for affected mothers and their children due to G-CSF treatment during pregnancy. In this study we assessed the outcome of pregnancies reported to the SCNIR in Europe since 1994 with regard to:The neutropenia status in newborns of mothers and fathers with different genetic CN subtypes as an indicator for inheritance.The impact of G-CSF treatment on maternal and newborn complications in women of all neutropenia subtypes with or without G-CSF treatment during pregnancy. Since 1994 the SCNIR has collected long-term follow-up data of 510 patients with severe chronic neutropenia subtypes. 3 patients are diagnosed with congenital (71 ELANE-CN, 31 HAX1, 9 GC6PC3, 47 SDS, 117 unknown, 45 other), 66 with cyclic and 82 with idiopathic neutropenia. Adulthood was reached by 144 out of 304 CN patients. These include 38 ELANE-CN patients (male:14, female:24) and 11 ELA-CyN patients (male: 5, female:6). A total of 20 pregnancies in 12 mothers and 13 newborns by 7 fathers with different genetic subtypes of CN have been reported. Among them are pregnancies of 11 women with ELANE-CN, 8 with ELANE-CyN, 1 with SDS, 13 with an unknown genetic origin of CN (n=9) or CyN (n=4). No pregnancies were reported in patients with HAX1 or G6PC3 although 7 of these patients have reached adulthood. Data on neutropenia status was documented in 24 out of 31 live births. Neutropenia in newborns was diagnosed in 16 out of 30 live births from parents with genetic subtypes of CN. In 8 of the 16 affected newborns neutropenia was related to ELANE mutations. One mother registered with SDS delivered a healthy child. During pregnancy 17 women received G-CSF treatment (CN=11, CyN=4, IDN=2). Regardless of any cytokine treatment no major infectious complications were reported in our cohort. 24 of 31 reported pregnancies resulted in life births. 5 spontaneous terminations occurred in women with respectively without exposure to G-CSF. In addition, 2 still births were reported in women with idiopathic neutropenia, but G-CSF exposure remains unknown. Conclusion: The proportion of newborns with congenital neutropenia indicates the pattern of inheritance by their parents and reveals the need for genetic counseling. However, the acceptance of having affected children may reflect the high quality of life due to G-CSF treatment in affected parents. G-CSF treatment during pregnancy is well tolerated. In terms of G-CSF treatment, no differences in infectious complications during pregnancy in women with or without G-CSF administration were reported in our cohort. Interestingly, the proportion of women receiving G-CSF during pregnancy is highest among the CN subtype indicating the severe clinical phenotype. We therefore recommend the application of G-CSF in patients with severe chronic neutropenia during pregnancy. Disclosures: No relevant conflicts of interest to declare.

scholarly journals The Experience of the Cooperation in Science and Technology European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias (COST EuNet-INNOCHRON) Action and the Sweden Experience in the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Era

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 3125-3125
Author(s):  
Michail Spanoudakis ◽  
David C. Dale ◽  
Emily Tran ◽  
Marije Bartels ◽  
Suncica Kapor ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Clinical Course ◽  
Age Distribution ◽  
Gastrointestinal Symptoms ◽  
Significant Risk ◽  
Autoimmune Neutropenia ◽  
Congenital Neutropenia ◽  
History Of ◽  
Neutropenic Patients ◽  
The Impact

Abstract Background-Aim: Infection from SARS-CoV-2 has emerged as new pathological entity within the global medical community. One of the earliest questions was in relation to the ability of the immunocompromised patients to clear the infection. In COST EuNet-INNOCHRON we were interested in the impact of SARS-CoV-2 infection in patients with different types of chronic neutropenia (CNP). The aim of the current study is to understand the impact of SARS-CoV-2 infection and to identify any possible characteristic patterns of the clinical course in patients with CNP. Patients and Methods: The COST EuNet-INNOCHRON Action in collaboration with the European Haematology Association - Scientific Working Group (EHA-SWG) on Granulocytes and Constitutional Marrow Failure Syndromes has conducted an online survey on SARS-CoV-2 infection in patients with CNP. The EuNet-INNOCHRON participants from different countries got access to an on-line platform fulfilling the General Data Protection Regulation (GDPR) and could register adult and paediatric CNP patients who had been infected by SARS-CoV-2 from March 2020 to June 2021. Data on demographic characteristics, type of CNP, patients' background and SARS-CoV-2 infection history (symptoms, laboratory features, radiological appearance, therapeutic approach and outcome) were collected. Results: Twenty-six patients with diagnosis of CNP, 7 males and 19 females were registered. Patient age distribution as follows: 16 patients >18 years old (y.o.)5 patients 5-18 y.o, 4 patients < 5 y.o whereas age was not available for one of the patients. Nine of the patients were diagnosed with idiopathic CNP, 7 patients with congenital neutropenia (6 of them with severe congenital neutropenia), 3 with secondary CNP, 2 with suspected autoimmune neutropenia of infancy (although antineutrophil Ab were negative), one with autoimmune neutropenia, one with drug induced neutropenia and 3 with other types of CNP. Twelve patients were on treatment with G-CSF and 6 patients had a history of previous viral or bacterial infections. Clonal Cytopenia(s) of Undetermined Significance (CCUS) was excluded in the eight patients who were investigated. Twenty-four out of 26 patients had positive PCR and one was found incidentally with positive antibodies for SARS-CoV-2. One more patient was symptomatic with history of close contact with SARS-CoV-2 infected family members. The commonest observed symptoms were fever >38 oC (19 patients), cough (10 patients), rhinorrhoea (10 patients), sore throat (6 patients), musculoskeletal pains (7 patients), taste/smell loss (5 patients), headache (5 patients), dyspnoea (4 patients), chest pain (one patient) and none of them had gastrointestinal symptoms. No other associated respiratory viral or bacterial infections were reported. Four patients who had one or more underlying conditions (immune deficiency, heart/respiratory/kidney disease) were admitted in hospital and needed anti SARS-CoV-2 treatment. Two of them had non-invasive ventilation and one of them needed admission in intensive care unit (ICU); both recovered. Another patient with Fallot's tetralogy needed mechanical ventilation in ICU and sadly passed away. No other deaths were observed. Deterioration of the pre-existing neutropenia was seen in two patients, two patients developed thrombocytopenia, one patient developed worsening lymphopenia and one anaemia. Twelve patients had chest X-ray and consolidation was found in two of them. All three patients who had chest CT scans were found with ground-glass changes. During the observation period (up to two months), no re-infection from SARS-CoV-2 was found. The Stockholm, Sweden experience is similar to the above data. One hundred fifty-four patients with CNP were followed up, for 10 months (March 1 to December 31, 2020) for SARS-CoV-2. Seventeen of these (i.e. 11 %) were infected. None needed hospitalization and there were no fatalities. Conclusion: Although the relative susceptibility of neutropenic patients to contract SARS-CoV-2 needs to be assessed with further studies, the clinical course and severity of SARS-CoV-2 infection doesn't seem to be worse in CNP patients (regardless the type of neutropenia and the need for GCSF treatment) compared to the general population. Also, like what has been observed in non-neutropenic patients, underlying comorbidities is a significant risk factor for severe disease and adverse outcome. Disclosures Dale: X4 Pharmaceuticals: Consultancy, Honoraria, Research Funding. Palmblad: Chiesi Ltd Sweden: Honoraria; Roche Sweden: Speakers Bureau; Chiesi Ltd Candada,: Honoraria.

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

Blood ◽  
2000 ◽  
Vol 96 (7) ◽  
pp. 2317-2322 ◽  
Author(s):  
David C. Dale ◽  
Richard E. Person ◽  
Audrey Anna Bolyard ◽  
Andrew G. Aprikyan ◽  
Cindy Bos ◽  
...  
Keyword(s):  
Neutrophil Elastase ◽  
Rna Splicing ◽  
Bacterial Infections ◽  
Autosomal Dominant ◽  
Mononuclear Cells ◽  
Mutational Analysis ◽  
Congenital Neutropenia ◽  
Gene Encoding ◽  
Cyclic Neutropenia ◽  
Shwachman Diamond Syndrome

Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant cyclic neutropenia was mapped to chromosome 19p13.3, and this disease is now attributable to mutations of the gene encoding neutrophil elastase (the ELA2 gene). The authors hypothesized that congenital neutropenia is also due to mutations of neutrophil elastase. Patients with congenital neutropenia, cyclic neutropenia, or Shwachman-Diamond syndrome were referred to the Severe Chronic Neutropenia International Registry. Referring physicians provided hematologic and clinical data. Mutational analysis was performed by sequencing polymerase chain reaction (PCR)-amplified genomic DNA for each of the 5 exons of the neutrophil ELA2 gene and 20 bases of the flanking regions. RNA from bone marrow mononuclear cells was used to determine if the affected patients expressed both the normal and the abnormal transcript. Twenty-two of 25 patients with congenital neutropenia had 18 different heterozygous mutations. Four of 4 patients with cyclic neutropenia and 0 of 3 patients with Shwachman-Diamond syndrome had mutations. For 5 patients with congenital neutropenia having mutations predicted to alter RNA splicing or transcript structure, reverse transcriptase-PCR showed expression of both normal and abnormal transcripts. In cyclic neutropenia, the mutations appeared to cluster near the active site of the molecule, whereas the opposite face was predominantly affected by the mutations found in congenital neutropenia. This study indicates that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropenia.

scholarly journals Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia

Blood ◽  
1992 ◽  
Vol 79 (5) ◽  
pp. 1144-1147 ◽  
Author(s):  
U Kyas ◽  
T Pietsch ◽  
K Welte
Keyword(s):  
Binding Sites ◽  
Signal Transduction Pathway ◽  
Receptor Expression ◽  
Scatchard Analysis ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Cyclic Neutropenia ◽  
Stimulating Factor

Abstract We studied granulocyte colony-stimulating factor (G-CSF) binding sites on neutrophils from patients with severe congenital neutropenia (SCN; Kostmann-syndrome) and cyclic neutropenia (CN) during treatment with recombinant human (rh) G-CSF. G-CSF receptor expression was measured by scatchard analysis. Neutrophils from six healthy controls expressed between 480 and 1,210 binding sites per cell, whereas neutrophils from five SCN patients expressed increased numbers of G-CSF binding sites ranging between 2,100 and 3,900 per cell. Neutrophils from four patients with CN expressed 350 to 1,600 binding sites per cell. The affinity of rhG-CSF to its receptor was similar in patients and controls. These data suggest that SCN patients and CN patients are not defective in G-CSF receptor expression as judged by the numbers of G- CSF binding sites and binding affinity; however, we cannot exclude defects in parts of the G-CSF receptor that may be involved in the signal transduction pathway.

scholarly journals Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia

Blood ◽  
1990 ◽  
Vol 75 (5) ◽  
pp. 1056-1063 ◽  
Author(s):  
K Welte ◽  
C Zeidler ◽  
A Reiter ◽  
W Muller ◽  
E Odenwald ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Severe Neutropenia ◽  
Colony Stimulating Factor ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Macrophage Colony Stimulating Factor ◽  
The Absolute ◽  
Macrophage Colony ◽  
Neutrophil Response ◽  
Stimulating Factor

Severe congenital neutropenia (SCN) is a disorder of myelopoiesis characterized by severe neutropenia secondary to a maturational arrest at the level of promyelocytes. We treated five patients with SCN with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) for 42 days and subsequently, between 1 and 3 months later, with rhG-CSF for 142 days. The objective was to evaluate the safety and ability of these factors to elicit a neutrophil response. rhGM-CSF was administered at a dose of 3 to 30 micrograms/kg/d (30 to 60 minutes, intravenously). In all patients, a specific, dose-dependent increase in the absolute granulocyte counts was observed. However, in four patients this increase was due to an increase in eosinophils, and in only one patient it was due to an increase in the absolute neutrophil counts (ANC). Subsequently, all patients received rhG-CSF at a dose of 3 to 15 micrograms/kg/d subcutaneously. In contrast to rhGM-CSF treatment, all five patients responded to rhG-CSF during the first 6 weeks of treatment with an increase in the ANC to above 1,000/microL. The level of ANC could be maintained during maintenance treatment. In one patient, the increase in ANC was associated with an improvement of a severe pneumonitis caused by Peptostreptococcus and resistant to antibiotic treatment. No severe bacterial infections occurred in any of the patients during CSF treatment. All patients tolerated rhGM-CSF and rhG-CSF treatment without severe side effects. These results demonstrate the beneficial effect of rhG-CSF in SCN patients.

Endogenous Endophthalmitis in an Urban University Setting: Characteristics, Treatment, and Outcomes

2020 ◽  
pp. 247412642095197
Author(s):  
Greg Budoff ◽  
Marco A. Zarbin ◽  
Neelakshi Bhagat
Keyword(s):  
Drug Use ◽  
Initial Treatment ◽  
Pars Plana Vitrectomy ◽  
Bacterial Infections ◽  
Fungal Infections ◽  
Intravenous Drug ◽  
Endogenous Endophthalmitis ◽  
Intravenous Drug Use ◽  
History Of ◽  
Pars Plana

Purpose: This work describes the characteristics, treatment, and outcomes of endogenous endophthalmitis (EE) cases over 13 years at a tertiary care hospital. Methods: This retrospective case series included EE cases from 2006 to 2018. Eyes were categorized by cultured organism and initial treatment status. Results: Forty-five eyes of 38 patients were identified with EE. Mean age was 48 ± 12 years and approximately three-fourths were male. Mean visual acuity (VA) at presentation was logMAR 1.86 ± 0.83. More than 50% of patients had a history of intravenous drug use. In a quarter of patients, no systemic source of infection was identified; 90% of these patients had a history of intravenous drug use. Bilateral infections occurred in 18% of participants. Of positive cultures, 29%, 56%, and 13% were fungal, gram-positive, and gram-negative in etiology, respectively. Eyes with fungal infections had a better presenting VA and were more likely to have better than 20/100 final VA vs those with bacterial infections. All patients received IV antibiotics; additionally 29% of eyes underwent initial combined pars plana vitrectomy with intravitreal antibiotic injection while 51% of eyes initially received bedside intravitreal antibiotic injection. There was no significant difference in final VA with respect to initial mode of treatment. Conclusions: Initial treatment of intravitreal antibiotics with or without pars plana vitrectomy did not show any difference in the average final VA in eyes with EE. Eyes with fungal infections had more favorable visual outcomes than those with bacterial infections. Almost 1 in 5 EE eyes were enucleated.

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