scholarly journals Inherited Autoinflammatory Disease with Immunodeficiency Combined with IgA Nephropathy

2020 ◽  
Vol 45 (06) ◽  
pp. 574-576
Author(s):  
Zhifeng Jiang ◽  
Aiqiao Feng ◽  
L I Tao
Keyword(s):  
Abdominal Pain ◽  
Iga Nephropathy ◽  
Autoinflammatory Disease ◽  
Chinese Women ◽  
Periodic Fever ◽  
Immune Dysregulation ◽  
Antibody Deficiency ◽  
Intermittent Fever ◽  
Hereditary Factors ◽  
History Of

AbstractThe etiology of unexplained periodic fever is often complex, and hereditary factors play an important role. This article describes a 26-year-old chinese women with intermittent fever for 9 years, with 10-year history of IgA nephropathy. Her fever is relieved during pregnancy, but after a baby is born, fever reappears, accompanied by headache, gasping after activity, chest pain, abdominal pain, blood in the stool, ataxia, intermittent back erythema, skin biopsy suggests amyloidosis, the autoinflammatory PLCG2 associated antibody deficiency and immune dysregulation was diagnosed by genetic testing. The fever was gradually relieved after treatment with rilonacept.

scholarly journals A rare hereditary disease: Muckle-Wells syndrome

2016 ◽  
Vol 8 (1) ◽  
Author(s):  
Nitya Ramreddy ◽  
Aviva Hopkins ◽  
Carlos Lozada
Keyword(s):  
Autoinflammatory Disease ◽  
Periodic Fever ◽  
Hereditary Disease ◽  
Genetic Mutation ◽  
Periodic Syndrome ◽  
Familial Cold Autoinflammatory Syndrome ◽  
Neonatal Onset ◽  
Fever Syndromes ◽  
History Of ◽  
Wells Syndrome

Cryopyrin associated periodic syndrome (CAPS) is a dominantly-inherited autoinflammatory disease, which is included in the group of periodic fever syndromes. It is caused by a defect in the regulation of inflammatory cytokines, particularly interleukin-1β. CAPS encompasses a spectrum of three phenotypes of increasing severity: familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS) and neonatal onset multisystem inflammatory disease. We report the case of a 58-year-old male, who had migratory joint pains, daily urticaria, chills, and episodic conjunctivitis since childhood and hearing loss in his 20s with a family history of similar symptoms. He was diagnosed with MWS after being found to have a <em>R262W</em> gene mutation in <em>NLRP3</em> gene and successfully treated with canakinumab. After his discovery, other 1<sup>st</sup> and 2<sup>nd</sup> degree family members with similar complaints were found to have the same genetic mutation and were also successfully treated with canakinumab.

An unusual presentation of epigastric pain due to thrombophlebitis of a recanalised umbilical vein – case report

2019 ◽  
Vol 98 (8) ◽  
pp. 326-327 ◽  
Keyword(s):  
Liver Cirrhosis ◽  
Abdominal Pain ◽  
Case Report ◽  
Portal Hypertension ◽  
Liver Disease ◽  
Epigastric Pain ◽  
Umbilical Vein ◽  
History Of ◽  
Clinically Significant ◽  
Inflammatory Changes

Introduction: The umbilical vein can become recanalised due to portal hypertension in patients with liver cirrhosis but the condition is rarely clinically significant. Although bleeding from this enlarged vein is a known complication, the finding of thrombophlebitis has not been previously described. Case report: We report the case of a 62-year-old male with a history of liver cirrhosis due to alcoholic liver disease presenting to hospital with epigastric pain. A CT scan of the patient’s abdomen revealed a thrombus with surrounding inflammatory changes in a recanalised umbilical vein. The patient was managed conservatively and was discharged home the following day. Conclusion: Thrombophlebitis of a recanalised umbilical vein is a rare cause of abdominal pain in patients with liver cirrhosis.

Antibiotic Therapy Did Not Prevent the Rupture of Mycotic Aneurysm of the Superior Mesenteric Artery

2015 ◽  
Vol 18 (3) ◽  
pp. 088
Author(s):  
Ye-tao Li ◽  
Xiao-bin Liu ◽  
Tao Wang
Keyword(s):  
Abdominal Pain ◽  
Infective Endocarditis ◽  
Aortic Valve ◽  
Superior Mesenteric Artery ◽  
Mesenteric Artery ◽  
Mycotic Aneurysm ◽  
Acute Abdominal Pain ◽  
Rare Complication ◽  
Emergency Operation ◽  
History Of

<p class="p1"><span class="s1">Mycotic aneurysm of the superior mesenteric artery (SMA) is a rare complication of infective endocarditis. We report a case with infective endocarditis involving the aortic valve complicated by multiple septic embolisms. The patient was treated with antibiotics for 6 weeks. During preparation for surgical treatment, the patient developed acute abdominal pain and was diagnosed with a ruptured SMA aneurysm, which was successfully treated with an emergency operation of aneurysm ligation. The aortic valve was replaced 17 days later and the patient recovered uneventfully. In conclusion, we present a rare case with infective endocarditis (IE) complicated by SMA aneurysm. Antibiotic treatment did not prevent the rupture of SMA aneurysm. Abdominal pain in a patient with a recent history of IE should be excluded with ruptured aneurysm.</span></p>

A Rare Case of Bilateral Incarcerated Obturator Hernias and a Right-Side Femoral Hernia

2020 ◽  
pp. 1-3
Author(s):  
Jinping Xu ◽  
Jinping Xu ◽  
Ruth Wei ◽  
Salieha Zaheer
Keyword(s):  
Emergency Department ◽  
Abdominal Pain ◽  
Femoral Hernia ◽  
Rare Case ◽  
Hernia Recurrence ◽  
High Morbidity ◽  
Diagnostic Challenge ◽  
Abdominal Ct ◽  
Abdominal Ct Scan ◽  
History Of

Obturator hernias are rare but pose a diagnostic challenge with relatively high morbidity and mortality. Our patient is an elderly, thin female with an initial evaluation concerning for gastroenteritis, and further evaluation revealed bilateral incarcerated obturator hernias, which confirmed postoperatively as well as a right femoral hernia. An 83-year-old female presented to the outpatient office initially with one-day history of diarrhea and one-week history of episodic colicky abdominal pain. She returned 4 weeks later with diarrhea resolved but worsening abdominal pain and left inner thigh pain while ambulating, without changes in appetite or nausea and vomiting. Abdominal CT scan then revealed bilateral obturator hernias. Patient then presented to the emergency department (ED) due to worsening pain, and subsequently underwent hernia repair. Intraoperatively, it was revealed that the patient had bilateral incarcerated obturator hernias and a right femoral hernia. All three hernias were repaired, and patient was discharged two days later. Patient remained well postoperatively, and 15-month CT of abdomen showed no hernia recurrence.

Lockdown dilemma: ingestion of magnetic beads presenting as right iliac fossa pain and subacute small bowel obstruction

2020 ◽  
Vol 13 (11) ◽  
pp. e236429
Author(s):  
Bankole Oyewole ◽  
Anu Sandhya ◽  
Ian Maheswaran ◽  
Timothy Campbell-Smith
Keyword(s):  
Abdominal Pain ◽  
Small Bowel ◽  
Magnetic Beads ◽  
Iliac Fossa ◽  
Serous Fluid ◽  
Magnetic Resonance Scan ◽  
History Of ◽  
Right Iliac Fossa Pain ◽  
Multiple Episodes ◽  
Safety Netting

A 13-year-old girl presented with a 3-day history of migratory right iliac fossa pain. Observations and inflammatory markers were normal, and an ultrasound scan was inconclusive. A provisional diagnosis of non-specific abdominal pain or early appendicitis was made, and she was discharged with safety netting advice. She presented again 6 days later with ongoing abdominal pain now associated with multiple episodes of vomiting; hence, the decision was made to proceed to diagnostic laparoscopy rather than a magnetic resonance scan for further assessment. Intraoperative findings revealed 200 mL of serous fluid in the pelvis, normal-looking appendix, dilated stomach and a tangle of small bowel loops. Blunt and careful dissection revealed fistulous tracts that magnetised the laparoscopic instruments. A minilaparotomy was performed with the extraction of 14 magnetic beads and the repair of nine enterotomies. This case highlights the importance of careful history taking in children presenting with acute abdominal pain of doubtful aetiology.

scholarly journals A case of sigmoid volvulus in an unexpected demographic

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Mohammad Saba ◽  
Joshua Rosenberg ◽  
Gregory Wu ◽  
Gudata Hinika
Keyword(s):  
Abdominal Pain ◽  
Severe Pain ◽  
Rare Case ◽  
Young Female ◽  
Sigmoid Volvulus ◽  
Case Presentation ◽  
Operative Complications ◽  
History Of ◽  
Male Sex ◽  
Emergent Laparotomy

Abstract Background A sigmoid volvulus occurs when a segment of the colon twists upon its mesentery. This infliction is associated with old age, multiple co-morbidities, and the male sex. We present a rare case of sigmoid volvulus that occurred in a healthy young female. Case presentation A 28-year-old female presented with a one week history of constipation and abdominal pain. Her symptoms suddenly worsened and became associated with vomiting and severe pain. A focused history taking and physical examination showed peritoneal signs that led to timely diagnostic imaging to be implemented. Computed tomography (CT) of the abdomen was consistent with sigmoid volvulus. Our patient underwent emergent laparotomy with a sigmoidectomy and recovered with no post-operative complications. Conclusion This case report emphasizes the importance of clinicians maintaining a sigmoid volvulus as a rare, yet important differential when approaching abdominal pain in young healthy patients.

scholarly journals History of IgA Nephropathy Mouse Models

2021 ◽  
Vol 10 (14) ◽  
pp. 3142
Author(s):  
Batoul Wehbi ◽  
Virginie Pascal ◽  
Lina Zawil ◽  
Michel Cogné ◽  
Jean-Claude Aldigier
Keyword(s):  
Iga Nephropathy ◽  
Small Animal ◽  
Experimental Models ◽  
Murine Models ◽  
Therapeutic Approaches ◽  
Complement Components ◽  
Simple Description ◽  
Primary Glomerulonephritis ◽  
History Of ◽  
Small Animal Models

IgA nephropathy (IgAN) is the most common primary glomerulonephritis in the world. It was first described in 1968 by Jean Berger and Nicole Hinglais as the presence of intercapillary deposits of IgA. Despite this simple description, patients with IgAN may present very broad clinical features ranging from the isolated presence of IgA in the mesangium without clinical or biological manifestations to rapidly progressive kidney failure. These features are associated with a variety of histological lesions, from the discrete thickening of the mesangial matrix to diffuse cell proliferation. Immunofluorescence on IgAN kidney specimens shows the isolated presence of IgA or its inconsistent association with IgG and complement components. This clinical heterogeneity of IgAN clearly echoes its complex and multifactorial pathophysiology in humans, inviting further analyses of its various aspects through the use of experimental models. Small-animal models of IgAN provide the most pertinent strategies for studying the multifactorial aspects of IgAN pathogenesis and progression. Although only primates have the IgA1 subclass, several murine models have been developed in which various aspects of immune responses are deregulated and which are useful in the understanding of IgAN physiopathology as well as in the assessment of IgAN therapeutic approaches. In this manuscript, we review all murine IgAN models developed since 1968 and discuss their remarkable contribution to understanding the disease.

scholarly journals Oriental Cholangiohepatitis in a Caucasian male

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110355
Author(s):  
Laura Suzanne K Suarez ◽  
Larnelle N Simms ◽  
Khaled Deeb ◽  
Curtis E Scott
Keyword(s):  
Abdominal Pain ◽  
South Korea ◽  
Southeast Asia ◽  
Biliary Decompression ◽  
Caucasian Male ◽  
Extensive Evaluation ◽  
Recurrent Pyogenic Cholangitis ◽  
History Of

Recurrent pyogenic cholangitis (RPC) is a condition found almost exclusively in individuals who lived in Southeast Asia. We report a case of a Caucasian veteran diagnosed with RPC after presenting with a 5-year history of recurrent fevers and abdominal pain 20 years after serving in Japan, South Korea, and Guam. Extensive evaluation led to the diagnosis of RPC with improvement after biliary decompression and antibiotics. Although rare, RPC should be considered in individuals who present with recurrent bouts of abdominal pain and fevers regardless of race.

scholarly journals An unusual case of chronic abdominal pain: an association between Celiac disease and Crohn’s disease

2021 ◽  
Vol 2021 (4) ◽  
Author(s):  
Leen Jamel Doya ◽  
Maria Naamah ◽  
Noura Karkamaz ◽  
Narmin Hajo ◽  
Fareeda Wasfy Bijow ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Abdominal Pain ◽  
Celiac Disease ◽  
Crohn's Disease ◽  
Histological Study ◽  
Gastrointestinal Diseases ◽  
Bowel Diseases ◽  
Oral Corticosteroids ◽  
History Of ◽  
High Caloric Diet

ABSTRACT Inflammatory bowel diseases (IBD) and Celiac disease (CeD) are immune-mediated gastrointestinal diseases with incompletely understood etiology. Both diseases show a multifactorial origin with a complex interplay between genetic, environmental factors, and some components of the commensal microbiota. The coexistence of celiac disease with Crohn’s disease is rarely reported in the literature. Here, we report a case of a 13-year-old Syrian male who presented with a history of abdominal pain, anorexia and pallor. CeD and Crohn’s disease was documented on gastrointestinal endoscopy and histological study. The patient was treated with a gluten-free, low fiber, high caloric diet, and a course of oral corticosteroids with an improvement in growth rate and abdominal pain.

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