Primary Manifestation Research Articles

Peripheral ulcerative keratitis: an unusual primary ocular manifestation in Behçet’s disease

Peripheral ulcerative keratitis: an unusual primary ocular manifestation in Behçet’s disease

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. This study aims to investigate the epidemiological and genotypic characteristics of patients with HGPS/PL in China. Using a cross-sectional study design, general characteristics and genotypic data of 46 patients with HGPS/PL from 17 provinces in China were analyzed. Among the 46 patients with HGPS/PL, 20 patients are HGPS, and the rest are PL; the identified total prevalence of HGPS/PL is 1/23 million. Among 42 patients with gene reports, 3 carried compound heterozygous mutations in the ZMPSTE24 while the other 39 carried LMNA mutations. Among PL, LMNA c.1579 C > T homozygous mutation was the most common. The onset of classic genotype HGPS is skin sclerosis in the first month after birth. The primary clinical manifestations of PL patients include skin abnormalities, growth retardation, and joint stiffness. The median age of onset for PL was 12 (6,12) months. In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL were located in LMNA, and the rest in ZMPSTE24. Most patients of HGPS/PL have skin abnormalities as the earliest manifestation. Compared to PL, the classic genotype HGPS starts earlier. Hutchinson-Gilford progeria syndrome (HGPS) and progeroid laminopathies (PL) are extremely rare genetic diseases with extremely poor prognoses. To date, there is a paucity of epidemiological data related to HGPS/PL in China. This study first examined the genotypic, phenotypic, and prevalence characteristics of 40-50% of the cases of HGPS/PL in mainland China through a collaborative international registry effort. In China, the identified total prevalence of HGPS/PL is 1/23 million. 92.8% of the genetic mutations of HGPS/PL are located in LMNA. LMNA c.1579 C > T homozygous mutations are the most common form of gene mutations among the Chinese PL population.

A case of repeated in-stent restenosis of coronary artery as a primary manifestation of seronegative antiphospholipid antibody syndrome

BackgroundAntiphospholipid antibody syndrome (APS) is a multisystemic autoimmune disorder which affects many organs or systems; however, coronary artery is relatively less frequently involved.Case presentationA 65-year-old female with effort chest pain was hospitalized for unstable angina in Janurary, 2015. Coronary angiography revealed sub-total occlusion of proximal left anterior descending (LAD) coronary artery, where a drug-eluting stent was successfully deployed. The patient experienced multiple in-stent stenosis at LAD coronary artery and coronary artery bypass graft (CABG) surgery was advised. Subsequently, severe stenosis of left circumflex (LCX) coronary artery emerged, and the patient suffered persistent in-stent restenosis. Eventually, the patient was diagnosed with seronegative antiphospholipid antibody syndrome and salvaged by immunosuppressants.ConclusionsRepeated in-stent restenosis could be a primary manifestation of seronegative antiphospholipid antibody syndrome, and suppression of autoimmune activity and inflammation other than purely coronary revascularization might be a better option.

Unveiling the Endowment Effect: Understanding Its Significance and Applications

The endowment effect is a widespread prevalent cognitive bias that affects peoples decision-making process in various aspects. This phenomenon is mainly because of peoples cognitive biases towards certain things. The primary manifestation of this cognitive bias is that when a person owns an item or asset, his/her evaluation of the value of the item or asset is more significant than when he does not own the item or asset. Thus, this research paper aims to unveil the significance and applications of the endowment effect and its relationship with risk aversion. Meanwhile, the paper will also explore how individuals tend to assign higher value to items they own. To conduct this research, a comprehensive literature review was performed to examine existing studies on the endowment effect, loss aversion and related behavioural economics theories. Real-life examples and case studies were also analyzed to illustrate the practical implications of these cognitive biases. The findings of this research paper demonstrate that the endowment effect and loss aversion are deeply ingrained in peoples decision-making process, leading individuals to make emotional rather than rational choices.Understanding the endowment effect is crucial for making informed decisions, as it allows individuals to distinguish between subjective and objective thinking. While it may not eliminate these biases from decision-making processes, strategies such as seeking outside perspectives, considering alternatives, and conducting thorough analyses may mitigate the endowment effects influence.

Precision medicine in axial spondyloarthritis: current opportunities and future perspectives.

Axial spondyloarthritis (axSpA) is a complex disease characterized by a diverse range of clinical presentations. The primary manifestation is inflammatory lower back pain, often accompanied by other clinical manifestations such as peripheral arthritis, enthesitis, uveitis, psoriasis, and inflammatory bowel disease. However, the presentation of axSpA can vary widely among patients. Despite extensive research, the precise pathogenesis of axSpA remains largely unknown. The lack of complete understanding poses challenges in subgrouping the disease, developing specific treatment approaches, and predicting treatment response. In this review, we will explore the limitations in diagnosing and treating axSpA. In addition, we will examine the current knowledge and potential opportunities provided by various omics and technological advancements in enhancing the diagnosis and personalized treatment of axSpA.

Bilateral Retinal Haemorrhages as Primary Ocular Manifestation of Chronic Myeloid Leukaemia - A Case Report

Chronic myeloid leukaemia (CML) in a patient with pre.existing uncontrolled diabetes and hypertension is rarely encountered but must be detected early for appropriate management with systemic chemotherapy. Significant fundus finding mimic diabetic and hypertensive retinopathy, which makes the diagnosis of CML challenging. Early recognition and treatment of the underlying condition can prevent further vision loss and overall morbidity and mortality. Here, we report a case of bilateral retinal haemorrhages as one of the manifestations of CML.

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome.

Alport syndrome (AS) is a common cause of end-stage renal disease (ESRD) with various clinical symptoms and incomplete manifestation. Patients with AS and other renal disorders are often misdiagnosed. This study reported three X-linked dominant Alport syndrome (XLAS) pedigrees with nephrotic syndrome (NS) as the predominant phenotype and analyzed COL4A5 gene alterations. Three Han Chinese XLAS pedigrees were recruited, and clinical phenotypes were obtained. The pre-certified individuals' peripheral blood DNA was taken, and whole-genome next-generation sequencing (NGS) was performed for candidate genes and mutation screening, followed by NGS or Sanger sequencing of suspected mutant types in participating family members. Both probands A and B were diagnosed with NS through biochemical tests, and X-linked Alport syndrome-associated renal injury was diagnosed by renal biopsy. The biopsy revealed focal foamy cells in the renal interstitium, tearing and delamination changes in the glomerular basement membrane, and negative α3 and α5 chains of type IV collagen. Proband C, who was earlier diagnosed with NS, has now advanced to ESRD, along with his mother and proband A's mother. Genetic sequencing of all three pedigrees identified three mutations, namely, c.5020C>T, c.4435_4445del, and c.1584_1587+6del in the X-linked dominant gene COL4A5 (NM_000495.5). These mutations lead to the production of shortened proteins, potentially impacting the function of COL4A5 and causing pathogenic effects. The novel c.4435_4445del and c.1584_1587+6del mutations not only enrich the spectrum of mutations in the COL4A5 gene but also indicate that carriers of both mutation sites and those with mutation c.5020C>T may present NS as their primary clinical manifestation.

Pneumomediastinum as a primary manifestation of COVID-19: A case report

Introduction: Pneumomediastinum is a rare complication that occurs in patients with Pneumonia caused by COVID-19 and is more frequent in patients with ARDS that may or may not be related to the use of invasive mechanical ventilation. Pneumomediastinum is an indicator of clinical deterioration with potentially threatening consequences for the patient. Method: We described a case report of a 23-year-old man with Pneumomediastinum, infected with COVID-19 in conditions of respiratory failure due to interstitial pneumonia. Case presentation: A 23-year-old man, who had no pre-existing health conditions presented to the Infectious Diseases service with complaints of difficulty in breathing, dry cough, chest pain, muscle pain, joint pain, loss of taste, sore throat, pronounced body weakness, diarrhea. Symptoms started 11 days ago. On admission the patient refers that he doesn’t suffer from any other disease. The patient was not vaccinated against COVID-19. At the time of admission to the hospital, the objective examination revealed cervical subcutaneous emphysema and harsh respiration in both lungs. The nasopharyngeal swab test (RT-PCR) for Covid-19 was positive from the Institute of Public Health. The CT scan of the chest confirmed the presence of pneumomediastinum major, subcutaneous emphysema and bilateral ground glass opacities. Conclusion: Pneumomediastinum is a rare complication of pneumonia caused by Covid-19 in which the etiopathogenesis consists of severe pulmonary involvement that may or may not be affected using invasive mechanical ventilation. Timely diagnosis of pneumomediastinum in patients with Covid-19 would prevent the occurrence of life-threatening complications. Keywords: Covid-19, pneumomediastinum, ARDS, Macklin effect, vaccine.

IMPROVING THE ECONOMIC TOOLKIT OF REGULATION OF ATMOSPHERIC EMISSIONS FROM STATIONARY SOURCES IN ARMENIA

In recent times escalating environmental problems have posed serious challenges to the sustainable development of society. Among those problems, the reduction of atmospheric air pollution has received a global and primary manifestation due to the threats of global climate change and deterioration of public health. Thus, the development and implementtation of measures aimed at the improvement and development of atmospheric emission prevention mechanisms in the context of sustainable development plays a key role. Efforts aimed at reducing emissions into the atmosphere are also highly relevant in Armenia. The low level of capturing of harmful substances detached from stationary sources of atmospheric emissions and the tendency of emissions to increase in the republic indicate the urgency of improving the efficiency of the national economic mechanism of atmospheric air protection. Therefore, the identification of the existing problems of the applied economic toolkit, the implementation of steps and programs developed on the basis of successful international experience to solve them, as well as to replenish the economic tools, can contribute to a more effective realization of the potential of the economic toolkit and the provision of ecological and economic comparable results, creating real opportunities for ensuring the sustainable development of Armenia.

Intra-Cranial Hematoma as a First Manifestation of Brain Tumours, a Meta-Analysis

Introduction: Intracerebral Hematoma (ICH), conventionally associated with vascular causes, is increasingly recognized as the initial presentation of underlying brain tumors. This Narrative review aims to synthesize current literature on the incidence, clinical features, diagnostic challenges, and outcomes associated with ICH as the primary manifestation of brain tumors. Methods: A systematic search across PubMed, Embase, and Cochrane Library databases yielded studies meeting inclusion criteria. These encompassed prospective and retrospective observational studies, case-control investigations, and case series reporting instances where ICH was the initial sign of an underlying brain tumor. Results: Analysis of the selected studies revealed variable incidences of ICH as the first manifestation of brain tumors, with differences across tumor types and patient demographics. Clinical presentations mimicked primary vascular causes, posing diagnostic challenges. Common tumor types included with varying intracranial locations. Treatment strategies ranged from surgery to adjuvant therapies, and outcomes were heterogeneous, influenced by tumor histology, location, and patient characteristics. Discussion: This review highlights the significance of recognizing ICH as an initial sign of brain tumors, emphasizing the need for refined diagnostic approaches and enhanced imaging modalities. Challenges in timely identification underscore the importance of heightened clinical suspicion. The variable outcomes suggest the necessity of tailoring treatment strategies based on tumor characteristics and patient factors, paving the way for future research to optimize interventions in ICH associated with brain tumors.

VEXAS syndrome: A review on clinical manifestations

Background: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified progressive, adult-onset, inflammatory disorder. Somatic mutations in the Ubiquitin-like modifier activating enzyme 1 (UBA1) gene at methionine-41 (p. Met41) were found in the patients. Clinical presentations are not limited to hematological and immunological systems; all organ systems are affected by VEXAS syndrome. The aim of this review is to summarise the scientific evidence accrued from the research studies on VEXAS syndrome, highlighting the clinical features and involvements of different organ systems.
 Conclusion: Although the primary manifestations affect the immunological and haematological systems, they gradually affect different other organ systems. Distinct clinical features necessitate ruling out the other possibilities that will be helpful for early diagnosis. More research should be carried out by the global research community in a collaborative manner for a better understanding and early diagnosis of the syndrome.

Neurological manifestations of COVID-19 in Indonesia: Assessment of the role of sex and age.

Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), can manifest in multiple organs. While the primary manifestations of COVID-19 occur in the respiratory system, other organ systems are also involved, including nervous systems that cause neurological symptoms. The aim of this study was to determine the neurological manifestations of COVID-19 patients and to assess the role of age and sex on neurological manifestation incidence. A cross-sectional study was conducted at Pelamonia Hospital, Makassar, Indonesia, among inpatient COVID-19 cases, using a total sampling method. Demographic data and neurological manifestations of the COVID-19 patients were collected. The associations between age and sex with the incidence of neurological symptoms were analyzed using the Chi-squared test. Out of 424 inpatients with COVID-19 cases, 62.3% were females, with the highest age group was 20-40 years (42.7%). The neurological symptoms were reported in 232 patients, accounting for approximately 54.7%. The most frequently reported neurological symptom was headache (n=104, 44.8%), followed by anosmia (n=44, 18.9%), ageusia (n=48, 20.6%), myopathy (n=14, 6%), stroke (n=10, 4.3%), seizure (n=5, 2.1%), and altered consciousness (n=7, 3%). An association was found between sex and the incidence of headache, myopathy, stroke, and altered consciousness. There was also an association between age and the incidence of headache and stroke. The study highlights that COVID-19 patients commonly exhibit neurological implications affecting the central nervous system and peripheral nervous system. Therefore, it is crucial for the early detection of neurological symptoms in COVID-19 cases to have better management.

Cutaneous metastasis from gastric cancer: Manifestation, diagnosis, treatment and prognosis

IntroductionCutaneous metastasis from gastric cancer is very rare. The understanding of this disease is incomplete. This situation delays its diagnosis and treatment, followed by poor prognosis. Here, we first report a study based on a network to improve the diagnosis, treatment and prognosis of cutaneous metastasis from gastric cancer. MethodsA comprehensive search of PubMed was performed. All studies on cutaneous metastasis from gastric cancer were collected. The publication date was limited from 2000 to the present, and the language was limited to English. SPSS 26.0 was employed for statistical analysis. ResultsSeventy-two patients were included. The average patient age was 60.0 ± 16.0 years. In total, 72.2 % of the patients were male. The most common manifestation was nodular skin lesions (45.8 %). The metastases generally presented as multiple lesions (61.1 %). The most common metastasis location was the thoracoabdominal wall (56.9 %). 64.7 % of the patients simultaneously had extracutaneous metastases. Most of the tumors were poorly differentiated carcinomas (87.5 %), and 66.1 % had signet ring cells. 40.8 % of the cutaneous metastases presented as primary manifestations. Only 9.6 % had their diagnosis as soon as the cutaneous metastasis emerged. Systemic chemotherapy (65.6 %) was the most common treatment strategy, followed by radical surgery (12.5 %). The median overall survival was only 6 months. The median overall survival of 5 patients with resected tumors was 48 months. ConclusionCutaneous metastasis from gastric cancer usually manifests as an emerged nodule or erysipelas-like skin lesion. Resection of the cutaneous lesion could be helpful for patients with local metastases.

Beyond the Usual Suspects: Emerging Insights into Takayasu’s Arteritis and Its Role in Secondary Hypertension

Background: Pulselessness is the main sign of Takayasu's Arteritis (TAK), a granulomatous large artery vasculitis that mostly affects the aorta, major aortic branches, and pulmonary arteries. Renal artery stenosis is the source of arterial hypertension, which is common in TA. It is estimated that there are 2.6 incidences of Takayasu's arteritis per million people worldwide each year.
 Case Details: We report on an 18-year-old girl whose significant arterial hypertension on her left arm, identified during a routine check-up, was the primary manifestation of Takayasu's arteritis (TA). The left arm's systolic blood pressure was noticeably greater than the right's. Additionally, there was a difference in blood pressure between the legs and left arm. Auscultation revealed the presence of vascular bruits over the left subclavian regions. A CT angiography was used to establish the diagnosis of TA. The results indicated a substantial constriction at the right renal artery's origin and characteristics compatible with aortic arteritis of the thoracic and abdominal aorta with active disease given wall enhancement. Due to the disorder's rarity and the varied ways in which it manifests clinically, a delayed diagnosis and treatment are likely.
 Conclusion: Our study emphasizes that this illness can and does affect young people, and as such, patients presenting with suggestive symptoms and signs—especially young patients with unexplained hypertension—should be taken into consideration. Appropriate imaging and clinical suspicion are essential for the accurate diagnosis and treatment of TA patients. Several findings were found during the clinical examination, including signs of claudication, fever symptoms, involvement of major vessels including the aorta and its branches. This illustrates the condition of Takayasu's arteritis and what medical professionals should anticipate when treating it.

Case Report: Unilateral Secondary Spontaneous Pneumothorax caused by Pulmonary Tuberculosis in a Heavy Smoker

Pneumothorax is an accumulation of air between the lungs and the chest wall that can occur either spontaneously or in conjunction with an underlying lung disease (primary spontaneous pneumothorax; secondary spontaneous pneumothorax, respectively). The primary manifestations of this ailment are chest discomfort and dyspnea. Secondary spontaneous pneumothorax is a common and potentially life-threatening consequence of pulmonary tuberculosis (TB) that frequently occurs in clinical settings and requires prompt and effective treatment. This case report seeks to comprehend the underlying mechanisms of spontaneous pneumothorax resulting from tuberculosis and effectively diagnose and treat this condition. A 37-year-old male presented to the emergency department at Abdoel Moeloek Regional General Hospital in Lampung Province with worsening dyspnea, followed by coughing and right-sided chest pain. By doing a thorough analysis of the patient's medical history, performing a physical examination, and conducting other tests, it was determined that the patient is suffering from a right secondary spontaneous pneumothorax, which is a result of pulmonary tuberculosis. The patient had WSD installation management and thereafter received hospitalization for symptomatic therapy and antibiotic treatment.

Epidemiological Profile of Headache-Related Hospitalizations in Brazil: A Five-Year Analysis (2018- 2022)

IntroductionHeadaches are significant neurological complaints addressed in Brazil, representing a significant challenge to the public healthcare system due to their high prevalence and difficult treatment in some cases. Many clinical conditions can be associated with headaches, which can be characterized as primary headaches when pain is the primary manifestation of the disease, or secondary headaches when they are caused by an identifiable underlying condition. This symptom leads many patients to seek medical assistance in different contexts, from primary healthcare to emergency departments, so its management must be adapted to each situation. Thus, it is important to understand the characteristic epidemiology of headaches due to its relevance to medical practice. ObjectiveThis study aims to assess the epidemiological profile of patients hospitalized in Brazil due to headaches in the last 5 years (2018-2022). For this purpose, descriptive variables associated with hospitalizations for headaches, such as region, age group, and gender, were compared. MethodsThis analysis was conducted through a retrospective, descriptive, and cross- sectional study, carried out with information released by the Hospital Information System (SIH/SUS) and the Brazilian Institute of Geography and Statistics (IBGE). With this data, the described variables were evaluated, comparing them among themselves. ResultsDuring this period, 50713 hospitalizations for headaches were recorded in Brazil. The year with the highest number of hospitalizations was 2019, with 11996 (23.65%) patients hospitalized for this clinical condition. In 2018, there were 11142 hospitalizations in the country, decreasing to 10291 in 2022, a reduction of 7.63% in the analyzed period. At the beginning of this period, the Brazilian region with the most hospitalizations was the South region, with 3372 patients hospitalized (30.26%) in 2018. However, in 2022, the Northeast region had the highest number of hospitalizations for headaches, with 3379 admissions (32.83%). Furthermore, the region with the highest relative increase in the analyzed parameter during this period was the North region, with a 78.51% increase in hospitalizations.Regarding age group, people aged over 30 years represented 66.72% of the hospitalizations for headaches. Additionally, it was observed that women accounted for 65.25% of the patients during the evaluated years.ConclusionIn conclusion, this study provided a better undestanding about epidemiological trends of headache-related hospitalizations in Brazil over the past five years. The findings highlight the significant burden that headaches pose to the healthcare system, necessitating careful consideration and tailored management strategies. The observed fluctuations in hospitalization rates across different regions and years underscore the dynamic nature of this healthcare issue, warranting further investigation.

The circular RNA expression profile of human auricle cartilage and the role of circCOL1A2 in isolated microtia

Microtia is one of the most common craniofacial birth defects worldwide, and its primary clinical manifestation is auricle deformity. Epigenetic factors are known to contribute to the etiology of microtia, yet the involvement of circular RNAs (circRNAs) in human auricle development and their association with microtia remains poorly understood. In this study, we aimed to analyze differentially expressed circRNAs and explore their functional implications in isolated microtia. By employing circRNA microarray analysis and bioinformatics approaches, we identified 340 differentially expressed circRNAs in auricle cartilage of patients with isolated microtia, comprising 152 upregulated and 188 downregulated circRNAs. A circRNA-mRNA co-expression network was constructed, followed by gene ontology analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis. Subsequently, we selected four significantly upregulated circRNAs from the co-expression network based on their association with cartilage development and validated their expressions in 30 isolated microtia and 30 control clinical auricle cartilage samples. Among these circRNAs, circCOL1A2, the most significantly upregulated circRNA, was selected as a representative circRNA for investigating its role in isolated microtia. Overexpression of circCOL1A2 significantly inhibited chondrocyte proliferation and chondrogenic differentiation of human mesenchymal stem cells. Additionally, circCOL1A2 upregulated Dermatan Sulfate Epimerase Like (DSEL) expression by sponging miR-637 through the competing endogenous RNA (ceRNA) mechanism. Notably, the downregulation of DSEL attenuated the inhibitory effect of circCOL1A2 overexpression on cell proliferation and chondrogenic differentiation. Collectively, these findings highlight the involvement of circCOL1A2 in the pathogenesis of isolated microtia and emphasize the potential significance of dysregulated circRNAs in disease development.

Lymphadenopathy in the rheumatology practice: a pragmatic approach.

Lymphadenopathy is a common clinical finding and diagnostic challenge within general medicine and rheumatology practice. It may represent a primary manifestation of an underlying immune-mediated disease or indicate an infectious or neoplastic complication requiring differing management. Evaluating lymphadenopathy is of particular relevance in rheumatology, given that lymph node enlargement is a common finding within the clinical spectrum of several well-known rheumatologic disorders including RA, SLE and SS. In addition, lymphadenopathy represents a hallmark manifestation of rare immunological diseases such as Castleman disease and IgG4-related disease that must be considered in the differential diagnosis because effective targeted treatments can now impact the prognosis of these conditions. In this review we present an overview of the clinical significance of lymphadenopathy in common and rare rheumatologic diseases and propose a practical approach to lymphadenopathy in the rheumatology practice. Differential diagnosis of Castleman disease and therapeutic options for this condition of increasing rheumatologic interest will be discussed in detail.

IL-10 and IFN-γ as markers for early recognition of pediatric systemic lupus erythematosus complicated with macrophage activation syndrome.

To compare the clinical and laboratory characteristics of pediatric-onset systemic lupus erythematosus (pSLE), pSLE with macrophage activation syndrome (MAS), and pSLE with recurrent MAS, and to find biomarkers for the differential diagnosis of these diseases. Demographic, clinical, laboratory and radiological data were analyzed for three groups of patients: 18 cases of pSLE with MAS, 48 age- and sex-matched cases of active pSLE without MAS and 40 age- and sex-matched cases of pSLE with inactive disease. One case of a 9-year-old girl with recurrent MAS as the primary manifestation of SLE also was recorded. IL-10 and IFN-γ levels were significantly higher in pSLE patients with MAS than in pSLE patients without MAS, and were significantly correlated with SLE and MAS laboratory features. Levels of IL-10 > 7.25 pg/ml had a high sensitivity and levels of IFN-γ > 6.7 pg/ml had a high specificity for predicting MAS in pSLE. Constitutional symptoms were evident in the case of recurrent MAS in pSLE, and traditional immunosuppressive therapies were unable to prevent the next MAS episode. Compared with pSLE and pSLE-MAS with a single episode, pSLE with recurrent MAS has different clinical manifestations and responses to treatment, requiring intensive studies to elucidate the underlying pathogenic mechanisms. Elevated serum levels of IL-10 and IFN-γ may be correlated with pSLE with MAS, and can serve as serum biomarkers for pSLE with MAS.

Renomegaly and acute kidney injury as primary manifestations of non-Hodgkin’s lymphoma: a report of three cases

BackgroundIn adults with non-Hodgkin's lymphoma, renal enlargement and acute kidney injury occur infrequently at first presentation, especially in T lymphocytic lymphomas.Case presentationWe report three cases of non-Hodgkin’s lymphoma with acute renal injury and bilateral renal enlargement. At diagnosis, one patient presented with an adrenal mass, one patient's lymph node biopsy was consistent with a renal biopsy, and one patient had primary renal lymphoma with no extrarenal disease. Assessment of renal pathology in Case 2 and Case 3 showed interstitial lymphocyte infiltration; the pathological types were non-Hodgkin's diffuse large B lymphoma originating from activated B cells outside germinal centers and non-Hodgkin's T-lymphoblastic lymphoma/leukemia, respectively. Case 1 did not receive anti-lymphoma therapy and died from infection and multiple organ failure within 1 month of hospitalization. Case 2 received eight courses of R-CHOP; her lymphoma recurred 2 years after diagnosis and she died from severe pulmonary infection 3 years after diagnosis. Case 3 received hyper-CVAD regularly and achieved stable renal function; this patient remains under follow-up.ConclusionsRenal lymphoma may have diverse manifestations, especially primary renal lymphoma without extrarenal involvement. Nephrologists should pay careful attention to these manifestations to ensure accurate diagnosis.