Diagnosis of light‐chain deposition disease after renal transplantation: A case report and literature review
Ontology highlight
ABSTRACT:
SUBMITTER: Yue J
PROVIDER: S-EPMC11240264 | biostudies-literature | 2024 Jun
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:BackgroundLight chain deposition disease (LCDD) is a systemic disorder typically characterized by non-amyloid monoclonal immunoglobulin light chain deposition in tissues. LCDD is recognized as a multisystem disease, in which the kidneys and liver are often affected. However, it is rarely encountered as a localized pulmonary disease. This study set out to characterize the clinical manifestations and features of pulmonary light-chain deposition disease (PLCDD) by conducting a retrospective analysis of clinical data obtained from patients, with the aim of improving clinical understanding of PLCDD.MethodsData from inpatients diagnosed with PLCDD at Shanghai Pulmonary Hospital (Shanghai, China) between January 2010 and December 2018 were retrospectively collected and analyzed.ResultsA total of 4 PLCDD patients confirmed with PLCDD by pulmonary tissue biopsy were analyzed. All of the patients were female and were found by physical examination. Chest images of each patient's lungs showed multiple cystic cavities with nodules. A history of Sjogren's syndrome was present with 1 patient, 2 patients were diagnosed with Sjogren's syndrome after surgery (including 1 diagnosed with Sjogren's syndrome in the 8th year of follow up), and 3 patients had leukopenia. The longest follow-up period was 8 years. During the follow-up period, 2 patients developed pulmonary lesions (1 patient had an enlarged original cystic lesion in basal segment of right lower lobe 2 years after surgery, while the other developed new nodules 7 years after surgery).ConclusionsPLCDD is characterized by multiple cystic changes with nodules in both lungs and can be easily complicated by lymphoid diseases such as Sjogren's syndrome. The clinical symptoms cannot be characterized, and the diagnosis depends on lung biopsy.
| S-EPMC7290530 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3
2017-03-24 | GSE96980 | GEO
Project description:Hemoptysis caused by Parvimonas micra: case report and literature review
| PRJEB72347 | ENA
Project description:Introduction and importanceCardiac amyloidosis (CA) is a rare condition, characterized by fibrillary proteins infiltration in the extracellular space of the heart. Even though many types of cardiac amyloidosis exist, light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR) remain the most described forms. The diagnosis of amyloidosis represents a real challenge for clinicians, requiring both invasive and non-invasive investigations. Conduction defects and atrial arrhythmias are well known complications of cardiac amyloidosis. However, only a few studies have reported junctional rhythm a primary presentation of light chain cardiac amyloidosis (AL). An early diagnosis and proper management are crucial to improve the prognosis of this disease.Case presentationHere, we report a rare case of a 48 year-old patient, in acutely decompensated heart failure, presenting an accelerated junctional rhythm (AJR) as initial presentation of light-chain cardiac amyloidosis. The diagnosis was made based on clinical, biological, radiological and histological findings. This case shows diagnostic difficulties and management of this rare disease.
| S-EPMC8977896 | biostudies-literature
Project description:Abstract Background Light-chain deposition disease (LCDD) is a systemic disorder characterized by non-amyloidotic light-chain deposition in various organs with Bence-Jones type monoclonal gammopathy. Although known as monoclonal gammopathy of renal significance, it may involve interstitial tissue of various organs, and in rare cases, proceeds to organ failure. We present a case of cardiac LCDD in a patient initially suspected of dialysis-associated cardiomyopathy. Case summary A 65-year-old man with end-stage renal disease requiring haemodialysis presented with fatigue, anorexia, and shortness of breath. He had a history of recurrent congestive heart failure and Bence-Jones type monoclonal gammopathy. A cardiac biopsy performed for suspected light-chain cardiac amyloidosis was negative for diagnostic Congo-red stain, however, paraffin immunofluorescence examination for light-chain suggested diagnosis of cardiac LCDD. Discussion Cardiac LCDD may go undetected leading to heart failure due to lack of clinical awareness and insufficient pathological investigation. In heart failure cases with Bence-Jones type monoclonal gammopathy, clinicians should consider not only amyloidosis but also interstitial light-chain deposition. In addition, in patients with chronic kidney disease of unknown cause, investigation is recommended to rule out cardiac light-chain deposition disease concomitant with renal LCDD. Although LCDD is relatively rare it occasionally affects multiple organs; therefore, it would be better to describe it as a monoclonal gammopathy of clinical significance rather than one of renal significance.
| S-EPMC9969531 | biostudies-literature
Project description:Light-chain deposition disease (LCDD) is characterized by tissue deposition of the immunoglobulin light chains in multiple organs. These deposits appear similar to amyloid on routine sections, but differ in their staining properties and ultrastructural appearance. The deposits of LCCD are non -Congophilic and do not exhibit a fibrillar ultrastructure; while, the proteinaceous substance seen in primary amyloidosis is Congo red positive and fibrillar. One of the most common organs to be involved in LCDD is the kidney. Earlier reports on cases of LCDD have mostly shown simultaneous liver and renal involvement, there are very few cases in the literature describing LCDD of the liver without renal involvement. This report describes a patient who presented with severe cholestatic jaundice and liver cell failure with normal renal function.
| S-EPMC3282131 | biostudies-other
Project description:BackgroundLight and heavy chain deposition disease (LHCDD) is a rare condition characterised by the deposition of immunoglobulin components in the kidneys. Similarly, Amyloidosis is also caused by the deposition of light chain and/or heavy chain components of immunoglobulins which are folded into amyloid fibrils characterised by Congophilic deposits that exhibit apple-green birefringence under polarised light. Only a handful of reports describing LHCDD with amyloid fibril deposition have been previously published, however, none have characterized the composition of the deposited immunoglobulin components via mass spectrometry.Case presentationWe report a case of a 79-year-old Japanese woman with nephrotic syndrome. Bone marrow aspiration revealed a slight proliferation of plasma cells (under 10%). Immunofluorescence assessment of renal biopsy showed amyloid-like deposits in the glomerulus that were positive for IgA and kappa. Further, the Congo red staining of the deposits was faintly positive, and only a slight birefringence was detected. Electron microscopy confirmed fine fibrillar structures and non-amyloid deposits. Finally, mass spectrometry revealed that the deposits were composed of abundant amounts of light chain with small amounts of heavy chain. Therefore, the patient was diagnosed with LHCDD and focal amyloid deposition. Chemotherapy was subsequently initiated, which resulted in haematological and renal response. Under polarised light, faint birefringence with Congo red staining and periodic acid-methenamine silver positivity indicated that the deposits were mostly non-amyloid fibrils with a small component of amyloid fibrils. Generally, the diagnosis of heavy- and light-chain amyloidosis is defined by greater heavy chain deposition compared to the light chain. However, in our case, contrary to the definition, the light-chain deposition was far greater than that of the heavy-chain.ConclusionsThis is the first case of LHCDD with focal amyloid deposition diagnosed by analysing the glomerular deposits by mass spectrometry.
| S-EPMC10294544 | biostudies-literature
Project description:Adult renal neuroblastoma (NB) is extremely rare, and there have been only a few cases previously described in the literature. We report a case of adult renal NB and summarize the clinical and imaging features of the reported cases.A 41-year-old female was admitted to our hospital with a chief complaint of gross hematuria that had persisted for a month. Nonenhanced computed tomography (CT) revealed a hypodense right renal mass without calcification. Enhanced CT showed an infiltrative, heterogeneously enhancing right renal mass with retrocaval lymphadenopathy and right renal vein thrombus. Magnetic resonance imaging (MRI) revealed that the right renal mass was isointense relative to the renal parenchyma on nonenhanced T1-weighted images; it showed mixed hypointensity and hyperintensity on T2-weighted images, and heterogeneous enhancement with a hyperintense rim on fat-saturated, enhanced T1W images. The initial impression was renal cell carcinoma (RCC).Adult renal neuroblastoma.Right nephroureterectomy with lymph node dissection was performed. The pathology and immunohistochemistry confirmed the diagnosis of renal NB with retrocaval lymphadenopathy and retroperitoneal metastasis.After surgery, the patient received 6 courses of chemotherapy, and no recurrence was observed during a 24-month follow-up period.The clinical picture of adult renal NB is that of a 44-year-old woman, presenting with an abdominal or renal mass about 13cm in size, accompanied by hypertension, hematuria, or pain. In contrast to CT features described in previous literature, no tumor calcification is mentioned in these adult renal NB cases. It is difficult to differentiate renal NB from RCC based on CT or MRI. However, biopsy, urinary catecholamine levels, and metaiodobenzylguanidine (MIBG) scan may aid in presurgical diagnosis.
| S-EPMC5902279 | biostudies-literature
Project description:Background: One of the most serious complications of cranial radiotherapy is the development of radiation-induced glioma, which is estimated to occur in 1 to 4% of patients who have received cranial irradiation and has a worse prognosis than sporadic glioblastoma. To date, owing to its rarity, no standard of care has been established for radiation-induced glioma. Although comprehensive genetic analysis has recently uncovered the molecular characteristics of radiation-induced glioma, the full picture remains unclear, and the molecular features associated with treatment response and prognosis are poorly understood. Case presentation: A 45-year-old man presented with generalized seizures caused by multiple brain tumors involving the right frontal lobe, thalamus, and brainstem. The patient had a history of whole-brain radiotherapy for the recurrence of Burkitt's lymphoma at the age of 12. He underwent craniotomy, and the histological diagnosis was a high-grade glioma with isocitrate dehydrogenase-wildtype, which was presumed to be a radiation-induced glioma that developed 33 years after whole-brain irradiation. The Heidelberg DNA-methylation brain classifier most closely matched diffuse pediatric-type high-grade glioma, receptor tyrosine kinase-1 subtype, which is a typical methylation class of radiation-induced glioma. Methylation-specific polymerase chain reaction showed that the O6-methylguanine-DNA methyltransferase gene promoter was unmethylated. Next-generation sequencing identified CDKN2A/B deletion as well as co-amplification of several receptor tyrosine kinase-encoding genes including PDGFRA, KIT, and KDR, which are all located on chromosome 4q12. Amplification of this region is present broadly across cancers and is associated with a poor prognosis in sporadic glioblastoma. Nevertheless, the patient received conventional chemoradiotherapy with temozolomide. Subsequent multimodal imaging with magnetic resonance imaging and 11C-methionine positron emission tomography revealed complete remission of all lesions. Two years later, the patient is currently alive with a favorable performance status. Conclusions: Despite radiation-induced glioma with molecular features suggestive of an aggressive phenotype, our patient unexpectedly responded well to conventional chemoradiotherapy, resulting in complete remission that is exceptional in sporadic glioblastoma. Our case indicates that some of the radiation-induced gliomas may have distinct molecular characteristics involved in the therapeutic response that differ from those of sporadic glioblastomas.
2025-05-14 | GSE276059 | GEO