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1.
Koloproktologia ; 21(4):111-119, 2022.
Article in Russian | EMBASE | ID: covidwho-2326677

ABSTRACT

AIM: to estimate the features of pseudomembranous colitis in patients with COVID-19, diagnostics, conservative treatment and surgery for complications. PATIENTS AND METHODS: a retrospective analysis of 396 patients with pseudomembranous colitis (PMC) in patients with new coronavirus infection was carried out for the period from March 2020 to November 2021. Among them there were 156 (39.3%) males, females - 240 (60.6%), moderate and severe forms of COVID-19 occurred in 97.48%. The diagnosis of PMC was established due to clinical picture, laboratory, instrumental methods (feces on Cl. difficile, colonoscopy, CT, US, laparoscopy). RESULT(S): the PMC rate in COVID-19 was 1.17%. All patients received antibiotics, 2 or 3 antibiotics - 44.6%, glu-cocorticoids were received by all patients. At 82.8%, PMC developed during the peak of COVID-19. To clarify the PMC, CT was performed in 33.8% of patients, colonoscopy - 33.08%, laparoscopy - in 37.1% (to exclude bowel perforation, peritonitis). Conservative treatment was effective in 88.8%, 76 (19.1%) patients had indications for surgery (perforation, peritonitis, toxic megacolon). Most often, with peritonitis without clear intraoperative confir-mation of perforation, laparoscopic lavage of the abdominal cavity was performed (60 patients - 78.9%, mortality - 15.0%), colon resection (n = 6 (7.9%), mortality - 66.6%), ileo-or colostomy (n = 8 (10.5%), mortality - 37.5%), colectomy (n = 2 (2.6%), mortality - 50.0%). The overall postoperative mortality rate was 22.4%, the incidence of surgical complications was 43.4%. In addition, in the postoperative period, pneumonia was in 76.3%, thrombosis and pulmonary embolism in 22.3% of patients. In general, the overall mortality in our patients with PMC was 11.4%, with conservative treatment - 8.8%. CONCLUSION(S): pseudomembranous colitis is a severe, life-threatening complication of COVID-19. In the overwhelm-ing majority of patients, conservative therapy was effective, but almost 1/5 of patients developed indications for surgery, the latter being accompanied by high mortality and a high morbidity rate. Progress in the treatment of PMC, apparently, is associated with early diagnosis, intensive conservative therapy, and in the case of indications for surgery, their implementation before decompensation of the patient's condition and the development of severe intra-abdominal complications and sepsis.Copyright © 2022, Association of Coloproctologists of Russia. All rights reserved.

2.
Journal of Pediatric Surgery Case Reports ; 93 (no pagination), 2023.
Article in English | EMBASE | ID: covidwho-2291847

ABSTRACT

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital condition, characterized by multiple venous malformations that may involve any organ system, most commonly the skin or the gastrointestinal tract. These lesions are often responsible for chronic blood loss and secondary anemia, and in rare situations may cause severe complications such as intussusception, volvulus, and intestinal infarction. Intussusception as a complication of BRBNS, although a known complication of the disease, has rarely been reported, especially in the Philippines. In the Philippine Society for Orphan Disorders, only 2 cases of BRBNS are currently included in the organization, including the patient presented in the case report. The treatment of BRBNS that involves the gastrointestinal tract depends on the extent of intestinal involvement and severity of the disease. The treatment aims to preserve the GI tract as much as possible due to the high recurrence in the disease. In this case report, we present a 13 year-old male with BRBNS with previous history of intussusception, successfully managed conservatively;however, upon recurrence, underwent exploratory laparotomy wherein a subcentimeter perforation in the antimesenteric border of the proximal ileum was noted, together with a gangrenous intussuscipiens, and multiple mulberry-like formations on the antimesenteric border of the small bowels. Histopathological findings of the resected bowels showed multiple cavernous hemangiomas consistent with BRBNS. The postoperative course of the patient was unremarkable.Copyright © 2023 The Authors

3.
European Respiratory Journal Conference: European Respiratory Society International Congress, ERS ; 60(Supplement 66), 2022.
Article in English | EMBASE | ID: covidwho-2276329

ABSTRACT

Case History:A 73-year old male patient with Hypertensive Cardiomyopathy, pulmonary emphysema, dyslipidemia,presented to our Pulmonary Department for COVID-19 pneumonia associated with respiratory failure. He was started on medical therapy and high flow oxygen reduced during hospitalization,he was not treated with noninvasive ventilation. During hospitalization,he developed before SPM,showed chest CT scan,and we achieved good results with conservative management, consisting of bed rest with oxygen inhalation or supportive pain control. After ten days,as the patient complained of continued abdominal pain, computed tomography(CT)abdomen was ordered and revealed sigmoid colonic diverticular and intestinal perforation. He underwent to resected sigmoid colon but few days after surgery the patient died. Spontaneous pneumomediastinum (SPM),unrelated to positive pressure ventilation and intestinal perforation (IP)have been recently reported as an unusual complications in cases of COVID19 pneumonia. For SPM, the presumed pathophysiological mechanism is diffuse alveolar injury leading to alveolar rupture and air leak, for GP is unclear,the perforation could result from altered colonic motility due to neuronal damage in addition to local ischemia resulting from hypercoagulable state caused by the virus. We present a case of COVID-19 pneumonia complicated both SPM and IP in the same patient,not yet described in literature. On this basis,we believe it is vital to institute SARS-CoV-2 precautions in patients who present with either respiratory or gastrointestinal symptoms,therefore high index of suspicion is needed to further manage those patients and,thus,improve their outcome.

4.
Rheumatology Advances in Practice ; 5(Supplement 1):i28-i29, 2021.
Article in English | EMBASE | ID: covidwho-2233822

ABSTRACT

Case report - Introduction: This is the case of an adolescent referred to rheumatology following 5 years of back pain. After years of trying a number of treatments without much success, the cause was found to be a previously undiagnosed urological pathology. The case highlights awareness of non-rheumatological causes and incidental findings which can redirect a patient towards more appropriate treatment and reduce the potential for long-term adverse health issues and anxiety. Case report - Case description: B was referred age 16 to rheumatology with a 5-year history of lower back pain. She had previously seen paediatricians with symptoms initially attributed to constipation due to intermittent straining and hard stool. However, constipation remedies had not relieved the pain which progressed gradually to a more persistent dull ache with impact on daily activities. Various analgesics (including paracetamol and non-steroidal anti-inflammatories), exercises and acupuncture had not helped. There was no history of recurrent urinary tract infections or symptom correlation with fluid intake, menstruation or bowel habit. No inflammatory features or connective tissue disease symptoms were noted and family history was unremarkable Clinical examination was normal apart from mild tenderness in the lumbar region. Rheumatoid factor was borderline positive (15 iu/mL) with the rest of blood tests normal including renal function, inflammatory markers (CRP, ESR), anti CCP and ANA. She had minimal microscopic haematuria without proteinuria. MRI spine in 2015 was normal. In view of her young age and symptoms affecting daily activities, STIR sequence spinal MRI was requested. This excluded any new or old inflammatory changes but incidentally identified a dilated left pelvi-calyceal system. Renal ultrasound confirmed a grossly hydronephrotic left kidney with hydroureter and minimal renal tissue suggesting longstanding obstruction. No calculi were seen. The patient was referred to urologists. Further investigations (including MRI abdomen) confirmed similar findings and a distal ureteric stricture. A MAG 3 renogram showed a normal right kidney but only 12% functioning of the left kidney. Urologists have advised surgery (removal of left kidney and ureter) which may relieve symptoms or a conservative non-surgical approach (continue analgesia, physiotherapy and monitoring). The patient and her family are relieved to have a possible cause identified and are considering the surgical option due to ongoing flank discomfort. Case report - Discussion: This was an interesting finding of hydroureter and hydronephrosis causing longstanding back pain presenting to rheumatologists. Until completion of the spondyloarthropathy protocol MRI (STIR images), aetiology had been unclear. Hydronephrosis and hydroureter has no specific age or racial predilection. Signs and symptoms may depend on whether obstruction is acute/chronic. Chronic cases may be asymptomatic or present as a dull discomfort (like this case). Some cases may only present in adulthood with pain precipitated by fluid intake. Blood tests may show impaired kidney function. Post-mortem studies suggest 50% of people have at least one renal abnormality (e.g., renal cysts, duplex ureters) with autopsy series incidence of hydronephrosis reported as 3.1%. Causes include anatomical abnormalities such as vesico-ureteric reflux, urethral strictures (usually present in childhood), calculi, benign prostatic hyperplasia, or intrapelvic neoplasms, pregnancy and infections (e.g., TB). Sudden onset unilateral renomegaly was reported in one case of primary Sjogren's with lymphocytic interstitial nephritis and positive Sjogren's autoantibodies. Our patient has no clinical or serological evidence of connective tissue disease. Minor pelvi-calyceal distension can occur as a normal finding in wellhydrated patients and pregnancy. However, significant hydronephrosis requires assessment to determine cause as it may affect long term renal function. Imaging via computed tomography, ultrasound and urograms can help guide further management. In this case the preceding cause and duration of pathology is unknown. Sterile, giant hydronephrosis treatment options include observation and ureteric stent or nephrostomy in patients unfit for surgery. Nephrectomy is advised for pain and recurrent infection in a non-functioning kidney. Complications may include bowel perforation, vascular injury and urine leakage. Both open and minimally invasive procedures have good reported outcomes. The COVID-19 pandemic and exams have affected timing of any elective procedures and the patient understands surgery may or may not offer complete symptom resolution. Case report - Key learning points: . Non-inflammatory causes of back pain should always be considered in cases of persistent back pain, particularly in young people to ascertain if there is a treatable cause . Hydronephrosis cases can be asymptomatic or present with vague, intermittent, non-specific abdominal symptoms with normal physical examination with or without haematuria. This can cause diagnostic uncertainty and delay referral to urology and appropriate renal investigations . Assessment of renal function (including MAG 3 renogram) is important to guide further management . Surgical interventions (pyeloplasty/nephrectomy) may ease symptoms long term but there is no guarantee of a successful outcome and operative risks need to be considered too . Left undiagnosed, potentially this patient could have had further disruption to daily activities and both physical and mental well being.

5.
Indian Journal of Nephrology ; 32(7 Supplement 1):S75, 2022.
Article in English | EMBASE | ID: covidwho-2201590

ABSTRACT

BACKGROUND: Approximately 272 000 peritoneal dialysis (PD) patients worldwide account for 11% of the global dialysis patients. Patterns of early outcomes in peritoneal dialysis (PD) are not well studied in South India, and dialysis providers need to establish a baseline of key outcomes for continuous quality improvement initiatives. AIM OF THE STUDY: The purpose of the present study was to investigate the basic clinical features of PD patients associated prognostic risk factors and to establish a prognostic risk model of short-term all-cause mortality. METHOD(S): A total of 156 chronic kidney patients opted CAPD as a kidney replacement modality were selected for the study. The study was conducted between 2019 to 2021 may. The clinical profile of the study peritonitis episodes and outcomes in terms of all cause mortality was studied. The data was analyzed using SPSS software. Qualitative variables were expressed in frequency and percentage. RESULT(S): Of the 156 patients studied, 67% were males and rest females with 83% of them having diabetes as the cause of CKD. Sixty eight percentage of them were self-motivated for CAPD. 85% had nil intraprocedural complication, and the failed procedure and bowel perforation was 4% and 2% respectively. Covid infection was very less in CAPD population, which was respectively 16% (category B) and 3% (category C). 77% were high average transporter status. Survival at one year was 84 percentage. Complications at first year were peritonitis (10%), fluid leak (6%), pancreatitis (6%), inflow/outflow pain (7%), exit site infection (3%), and 80% had no complications. 86% had no hospitalization in one year. There was no significant difference in survival based on different serum albumin levels (p-value 0.94 and chi-square 0.13.), serum phosphorus levels, with Fisher'S exact p-value 0.30 or diabetes status, (with p-value 0.43 and chi square 0.62.). Higher Kt/V reach rates are associated with a better prognosis in incident PD patients. Multivariate survival analysis showed (rGFR), SBP, Kt/V, and high PET type were independently associated with one-year mortality. CONCLUSION(S): CAPD had overall a better one year mortality.

6.
Chest ; 162(4):A855, 2022.
Article in English | EMBASE | ID: covidwho-2060708

ABSTRACT

SESSION TITLE: COVID-19 Co-Infections SESSION TYPE: Rapid Fire Case Reports PRESENTED ON: 10/19/2022 12:45 pm - 1:45 pm INTRODUCTION: We present a case of Eggerthella bacteremia in a patient with COVID-19. CASE PRESENTATION: A 69-year-old woman presented to the emergency room with chief complaint of cough, dyspnea, and malaise. After testing positive with a home COVID-19 test three days earlier, she continued to have worsening respiratory status and was brought in via ambulance. She was found to be tachycardic and hypoxic, requiring high-flow oxygen to maintain saturation in the emergency department. Chest X-ray showed bilateral patchy opacities consistent with multifocal COVID-19 pneumonia, and she was admitted to the intensive care unit for acute hypoxic respiratory failure. COVID-19 drug therapy was initiated, including baricitinib, remdesivir and decadron. Shortly after hospitalization, she began to endorse worsening abdominal pain. Physical exam elicited tenderness to palpation of her right lower quadrant. Abdominal CT scan showed distal ileum fluid collection concerning for possible bowel perforation. She underwent exploratory laparotomy which confirmed perforation, and a small bowel resection with anastomosis was performed. Blood cultures were positive for gram-positive bacilli, which were further identified as Eggerthella species. She required mechanical ventilation for worsening respiratory function post-surgery but remained unresponsive on the ventilator. The patient was administered vancomycin but continued to decline and eventually expired. DISCUSSION: Eggerthella is an anaerobic, gram-positive bacilli present in the gut microflora. Eggerthella infection has most often been reported in intra-abdominal infections. However, cases of bacteremia infection remain sparse. Most infections have been associated with other gastrointestinal processes including Crohn's disease, ulcerative colitis, appendicitis, and diverticulitis abscesses. Our case involved a patient with no significant gastrointestinal history admitted for COVID-19 pneumonia infection on baricitinib complicated by bowel perforation and bacteremia. Bowel perforation is a known risk factor of baricitinib use, and these risks should be discussed with the patient before beginning therapy. Overall mortality for Eggerthella species infection remains high, with some estimates as high as 31%. Much remains unknown about the impact on gut microbiome by SARS-CoV-2, however, early research suggests a higher rate of fungal co-infection in patients with COVID-19. As the literature on COVID-19 expands, more and more unusual pathogens such as Eggerthella may be found to contribute to the morbidity and mortality of patients being treated for COVID-19. CONCLUSIONS: Unusual pathogens such as Eggerthella may complicate a patient's hospital course while undergoing treatment for COVID-19. Reference #1: Alejandra Ugarte-Torres, Mark R Gillrie, Thomas P Griener, Deirdre L Church, Eggerthella lenta Bloodstream Infections Are Associated With Increased Mortality Following Empiric Piperacillin-Tazobactam (TZP) Monotherapy: A Population-based Cohort Study, Clinical Infectious Diseases, Volume 67, Issue 2, 15 July 2018. Reference #2: Gardiner BJ, Tai AY, Kotsanas D, et al. Clinical and microbiological characteristics of Eggerthella lenta bacteremia. J Clin Microbiol. 2015. Reference #3: Lau SK, Woo PC, Fung AM, Chan K-M, Woo GK, Yuen K-Y. Anaerobic, non-sporulating, gram-positive bacilli bacteraemia characterized by 16s rrna gene sequencing. Journal of medical microbiology. 2004. DISCLOSURES: No relevant relationships by Kristin Davis No relevant relationships by Charles Peng

7.
Middle East J Dig Dis ; 14(2): 265-267, 2022 Apr.
Article in English | MEDLINE | ID: covidwho-2044375

ABSTRACT

Coronavirus disease 2019 (COVID-19) had caused pandemia with a high rate of mortality and morbidity. Lung involvement is the main cause of mortality, but central nervous system and cardiac disease, and thromboemboli may participate in increasing mortality. A wide spectrum of organs involvement and complication has been reported as data gathering during the pandemia has progressed. We report a 69-year-old man who was admitted to Imam Khomeini hospital in Tehran and complained of severe abdominal pain and fever. He had been admitted 10 days earlier because of dyspnea and fever. At the first admission, based on the findings in the lung computed tomography (CT) and a positive nasopharyngeal polymerase chain reaction (PCR) test for COVID-19, he was treated with intravenous remdesivir for 5 days and prophylactic anti-coagulant heparin during hospital admission. Two days before the new admission, he was discharged with relative recovery. During the new admission, because of the absence of hypoxemia and leukocytosis diagnostic approach to abdominal pain was planned. In abdominal imaging, evidence of bowel perforation appeared. In laparotomy, suppurative peritonitis and proximal jejunal perforation without definite etiology were seen, and bowel resection and primary anastomosis were done. After 5 days, the patient was discharged in good condition. This case is reported to inform that bowel perforation due to ischemia or vasculitis may complicate the course of COVID-19 and, in cases of gastrointestinal symptoms, should be considered.

8.
Pediatrics ; 149, 2022.
Article in English | EMBASE | ID: covidwho-2003014

ABSTRACT

Introduction: In this case we review important newborn nursery management strategies and unique surgical diagnostic measures in a severe case of intestinal obstruction due to small left colon syndrome (SLCS) - illustrating an impressive relationship between intestinal dysmotility and meconium plug formation that increases risk of intestinal perforation in the newborn. Case Description: We present a case of an infant born to a mother with symptomatic COVID-19, who at 24 hours of life was treated for failure to pass meconium with a glycerin suppository and went on to develop bilious emesis and severe abdominal distention as feeding continued over the next several hours. After a normal upper GI, a barium enema identified a distal obstruction and the pediatric surgical team used rectal irrigation to remove a large meconium plug which mimicked the appearance of the descending colon on plain film, ultimately leading to the diagnosis of SLCS. The infant went on to stool normally after removal, however due to the severity of his initial clinical picture, a multi-disciplinary team was consulted, and concluded that given the severity of the meconium plug, a workup for cystic fibrosis was indicated, but deferred a rectal biopsy for Hirschprung disease due to normal return of bowel function upon removal of the obstruction. Discussion: Meconium plug syndrome is a transient distal GI obstruction in the lower colon or rectum with thick meconium and is thought to be due to poor intestinal motility. A contrast enema is typically diagnostic, showing a decrease in bowel caliber distal to the plug, and therapeutic, as the plug is often passed during the procedure. A sharp transition zone at the splenic flexure followed by a narrow descending colon on imaging is consistent with SLCS with a meconium plug at the transition zone. Infants presenting with both meconium plug syndrome and SLCS may require an evaluation for an underlying diagnosis of cystic fibrosis or Hirschprung disease. Delayed meconium passage is present in 11.9% of infants diagnosed with cystic fibrosis, while 15% of infants with meconium plugs have an aganglionic segment on rectal biopsy, indicative of Hirschprung disease. The decision to perform additional tests in an infant with SLCS should be guided by the patient's clinical course and in conjunction with a pediatric surgical team. Conclusion: Although intestinal obstruction in the newborn is rather rare, it is imperative that it is promptly diagnosed and treated to avoid negative outcomes. Despite being considered a mild form of obstruction due to its transient nature, meconium plug syndrome can lead to an impressive clinical illness and urgent consultation with a surgical team is vital due to the risk of intestinal perforation if the obstruction is not relieved.

9.
Gastroenterology ; 162(7):S-1376-S-1377, 2022.
Article in English | EMBASE | ID: covidwho-1967452

ABSTRACT

BACKGROUND: Gastrointestinal (GI) manifestations are the most frequently reported extrapulmonary symptoms of COVID-19 infection with a prevalence of 10%-50%. Most common ones are nausea, vomiting, diarrhea and abdominal pain. GI perforation especially spontaneous colonic perforations are rare in the disease course. METHODS: We report the case of a patient with COVID-19 infection, who developed cecal perforation while recovering from COVID pneumonia, necessitating emergent surgical treatment, and the current literature was reviewed. CASE PRESENTATION: 65-year-old male presented to the hospital with shortness of breath, myalgias and fever. He was admitted to ICU secondary to acute hypoxemic respiratory failure due to COVID 19 pneumonia. He was treated with steroids, tocilizumab and remdesivir. On day-11, he developed severe abdominal pain with worsening leukocytosis. His CXR showed air under diaphragm and abdominal CT showed large pneumoperitoneum, suggestive of a perforated viscus. He underwent emergent laparotomy and was found to have non-obstructive cecal perforation. A colonic de-tension and right colectomy with ileotransverse anastomosis was performed and he was successfully discharged later. The tissue pathology showed distended colon, active colitis, transmural granulocytic inflammation, micro-abscesses, and ulceration suggestive of bowel perforation. DISCUSSIONS: ACE2 protein, a cell receptor for SARS-CoV-2, has been found in glandular cells of gastrointestinal epithelia. Direct viral infection, small vessel thrombosis, or nonocclusive mesenteric ischemia are some possible explanations for the spectrum of bowel findings. SARS-CoV-2 can have direct inflammatory effect on vascular endothelium too. Use of steroids, tocilizumab and systemic coagulopathy seen in severe COVID-19 infection also contributes to these manifestations. In our patient, an acute over-distension of colon, without mechanical distal obstruction, in the setting of COVID-19 infection & tocilizumab led to cecal perforation. Our literature review confirmed only 33 case-reports or series of bowel perforation (either as presenting symptom or during hospital course) in the setting of COVID-19 infection have been reported, with combined 28.5% mortality rate and 5 studies not reporting the outcome. Considering the worldwide incidence of this pandemic, it is a rare complication. CONCLUSIONS: GI perforation is a rare but dangerous complication of COVID19. Treatment with interleukin- 6 inhibitors or steroids is often associated in most cases. As we are gaining more knowledge about clinical spectrum of this novel disease, we are learning more about its possible rare expression, associations, and complications. Our case underlines the need to be vigilant for severe GI symptoms in setting of COVID-19 infection to enrich our understanding of this pandemic and as a result improve patients' outcome. (Figure Presented)

10.
Journal of Clinical and Diagnostic Research ; 16(6):PR01-PR04, 2022.
Article in English | EMBASE | ID: covidwho-1887319

ABSTRACT

Jejunal diverticulosis is the herniation of mucosa through weakened wall of jejunum on the mesenteric border. Individuals are usually asymptomatic for most of their lives and are diagnosed incidentally by radiological investigations or during surgery. Increased number of hospital admissions and investigations done to better understand the phenomenon of Coronavirus Disease 2019 (COVID-19) had increased the rate of incidental diagnosis. Four patients admitted to the COVID-19 ward of the hospital were diagnosed with COVID-19. They were treated according to the protocol followed in the state, which included high dose of steroids. During the course of treatment, they experienced abdominal pain with distension and were diagnosed with Jejunal Diverticulitis with perforation. Exploratory laparotomy with jejunal resection and jejuno-jejunal anastomosis with feeding jejunostomy was performed and adequate postoperative care was provided. Two out of the four patients survived and were discharged after they achieved full recovery and became COVID-19 negative. The cause of perforation can be attributed to the high dose of steroids used during the treatment as steroids have been proved to cause spontaneous bowel perforations.

11.
Pediatric Rheumatology ; 19(SUPPL 1), 2021.
Article in English | EMBASE | ID: covidwho-1571799

ABSTRACT

Introduction: The number / phenotype of DADA2 continues to expand rapidly though series from Asia are scant. Objectives: Share experience with 10 DADA2 patients (9 unrelated families) identified over 2 years. Methods: We diagnosed the first case in April 2019 following which we recalled and diagnosed 4 more patients on renewed suspicion. In 2, their phenotypes did not match the initial provisional diagnosis of primary CNS vasculitis and inflammatory bowel disease (IBD) respectively while 2 had been treated as classic PAN. 4 patients were diagnosed prospectively on clinical suspicion and 1in whom we suspected syndromic bone dysplasia with inflammatory features was a diagnostic surprise. Results: 7/10 are males. Age of onset ranged from 4 months - 17 years 9 months. Referrals were by varied specialists including primary pediatrician, pediatric hematologist, ophthalmologist, adult neurologist and urosurgeon. Medium-vessel dominated disease was seen in 6 patients and in 3 we suspected a systemic autoinflammatory disease (SAID) {1-febrile relative of a previously diagnosed DADA2 patient, 1-IBD-like with cutaneous vasculitis,1- early onset prolonged fever with granulomatous mediastinal adenitis suspected Blau syndrome} and 1 patient with progressive deforming symmetric inflammatory arthropathy and acquired micrognathia. Cutaneous features were the commonest;seen in 7 patients and stroke was seen in 3. Other systems involved were musculoskeletal (5- including the bone dysplasia mimic described above),renal (4- notable were renal artery stenosis and perinephric hematoma), gastrointestinal (2- notable was bowel perforation), while ocular involvement was seen in 2 (notable being central retinal artery occlusion and episcleritis). Hematological features were seen in 5 and included pure red cell aplasia, persistent leucopenia and thrombocytopenia in 1 patient each and anemia in 2 (notable-unexplained anemia of infancy). None of the patients had exclusive hematological disease or immunodeficiency. 5 were homozygous for p.G47R variant and 2 are compound heterozygous with p.G47R and splice mutation c.753+2T>A and p.G47R and p.H219P respectively. Of those with p.G47R variant 4 belong to Agarwal community in whom endogamy is known. 2 patients born of a first cousin marriage (and even related three generations higher) have a homozygous pathogenic variant p.G358R. The patient with symmetrical skeletal affliction has a homozygous pathogenic variant in p.R169Q. All 4 patients in whom ADA2 enzyme assay was performed were deficient. 4 patients are on etanercept originator molecule and 6 on etanercept biosimilar with treatment duration varying between 2 weeks to 116 months and no drug side effects. 9 patients are in clinical remission off steroids and growing well with no restriction of activities of daily living. 2 have residual hypertension. 1 unvaccinated patient contracted COVID 19 and recovered uneventfully. Conclusion: Since our first case in 2019, DADA2 is now the commonest SAID in our cohort (10/44). Due to its initial presentation to varied specialists we need to spread awareness to increase diagnosis. We report an unusual phenotype mimicking a bone dysplasia and alert colleagues that the classic phenotype originally described is being overshadowed by a wide spectrum. The p.G47R mutation is the commonest in our series and seen in the endogamous Agarwal community. The disease is very responsive to etanercept and treatment is progressively affordable with etanercept biosimilar. Residual hypertension may be seen with renal involvement and 1 patient with COVID19 on etanercept recovered uneventfully.

12.
Italian Journal of Medicine ; 15(3):44, 2021.
Article in English | EMBASE | ID: covidwho-1567571

ABSTRACT

Introduction: Antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitides (AAV) are a group of systemic vasculitides that predominantly affect small vessels. Clinical phenotype is heterogeneous: kidney and/or pulmonary involvement is described in up to 75-90% of cases. Among these, rapidly progressive glomerulonephritis and diffuse alveolar haemorrhage are the most serious manifestations. Description of the case: A 73-year-old man presented with 15 days history of fever, productive cough and fatigue (SARS-CoV- 2 nasopharyngeal swab negative);antibiotic therapy prescribed was ineffective. Afterwards he developed necrosis of right hand distal phalanx, oedema of lower extremities, dyspnoea for mild exertion and acute renal failure, that needed dialysis. A lung HRCT showed ground glass opacities, blood tests underlined high inflammatory indices and high title PR3-ANCA positivity. Diagnosis of PR3-ANCA associated vasculitis was made and glucocorticoid therapy with methylprednisolone (1mg/Kg/day) was started. For the occurrence of emoptysis, respiratory failure and anemization, suspecting diffuse alveolar haemorrhage, methylprednisolone pulse therapy (500 mg/day for 5 days), plasmapheresis and rituximab (375 mg/m2/week for 4 infusions) were administered. There was a progressive clinical-laboratory improvement. However the patient developed intestinal perforation and died. Conclusions: AAV represent rare diseases, burdened by a poor prognosis. They need a careful internist and a multidisciplinary approach to ensure an early therapeutic intervention.

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