scholarly journals Juxtaglomerular cell tumour of the kidney: a rare cause of resistant hypertension

2022 ◽  
Vol 2022 ◽  
Author(s):  
Nikitas S Skarakis ◽  
Irene Papadimitriou ◽  
Labrini Papanastasiou ◽  
Sofia Pappa ◽  
Anastasia Dimitriadi ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Resistant Hypertension ◽  
Early Recognition ◽  
Smooth Muscle Actin ◽  
Secondary Hypertension ◽  
Cell Tumour ◽  
Channel Blockers ◽  
List Type ◽  
Juxtaglomerular Cell ◽  
Abdomen Ct

Summary Juxtaglomerular cell tumour (JGCT) is an unusually encountered clinical entity. A 33-year-old man with severe long-standing hypertension and hypokalaemia is described. The patient also suffered from polyuria, polydipsia, nocturia and severe headaches. On admission, laboratory investigation revealed hypokalaemia, kaliuresis, high aldosterone and renin levels, and the abdomen CT identified a mass of 4 cm at the right kidney. Kidney function was normal. Following nephrectomy, the histological investigation revealed the presence of a JGCT. Immunostaining was positive for CD34 as well as for smooth muscle actin and vimentin. Following surgery, a marked control of his hypertension with calcium channel blockers and normalization of the serum potassium, renin or aldosterone levels were reached. According to our findings, JGCT could be included in the differential diagnosis of secondary hypertension as it consists of a curable cause. The association of JGCT with hypertension and hypokalaemia focusing on the clinical presentation, diagnostic evaluation and management is herein discussed and a brief review of the existing literature is provided. Learning points Juxtaglomerular cell tumours (JGCT), despite their rarity, should be included in the differential diagnosis of secondary hypertension as they consist of a curable cause of hypertension. JGCT could be presented with resistant hypertension along with hypokalaemia, kaliuresis and metabolic alkalosis. Early recognition and management can help to prevent cardiovascular complications. Imaging (enhanced CT scans) may be considered as the primary diagnostic tool for the detection of renal or JGCT. For the confirmation of the diagnosis, a histopathologic examination is needed.

Secondary hypertension due to juxtaglomerular cell tumour (reninoma)

2015 ◽  
Vol 9 (4) ◽  
pp. e119
Author(s):  
Igor Nunes ◽  
Tiago Santos ◽  
Sara Croca ◽  
Alberto Figueira ◽  
João Coutinho ◽  
...  
Keyword(s):  
Secondary Hypertension ◽  
Cell Tumour ◽  
Juxtaglomerular Cell

scholarly journals Large intraperitoneal lipoleiomyoma in a pre-menopausal woman: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Sara L. Schaefer ◽  
Amy L. Strong ◽  
Sheena Bahroloomi ◽  
Jichang Han ◽  
Michella K. Whisman ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Smooth Muscle ◽  
Case Report ◽  
Smooth Muscle Actin ◽  
Abdominal Mass ◽  
Histopathological Analysis ◽  
Menopausal Woman ◽  
En Bloc ◽  
Cross Sectional

Abstract Background Lipoleiomyoma is a rare, benign variant of the commonplace uterine leiomyoma. Unlike leiomyoma, these tumors are composed of smooth muscle cells admixed with mature adipose tissue. While rare, they are most frequently identified in the uterus, but even more infrequently have been described in extrauterine locations. Case presentation We describe a case report of a 45-year-old woman with a history of in vitro fertilization pregnancy presenting 6 years later with abdominal distention and weight loss found to have a 30-cm intra-abdominal lipoleiomyoma. While cross-sectional imaging can narrow the differential diagnosis, histopathological analysis with stains positive for smooth muscle actin, desmin, and estrogen receptor, but negative for HMB-45 confirms the diagnosis of lipoleiomyoma. The large encapsulated tumor was resected en bloc. The patients post-operative course was uneventful and her symptoms resolved. Conclusions Lipoleiomyoma should be considered on the differential diagnosis in a woman with a large intra-abdominal mass. While considered benign, resection should be considered if the mass is symptomatic, and the diagnosis is unclear or there is a concern for malignancy.

scholarly journals Clinicopathological features and differential diagnosis of gastrofibromatosis-like undifferentiated carcinoma

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097446
Author(s):  
Zhishang Zhang ◽  
Guang Zhao ◽  
Bo Jiang ◽  
Baohui Li ◽  
Yangkun Wang
Keyword(s):  
Differential Diagnosis ◽  
Gene Amplification ◽  
Smooth Muscle Actin ◽  
Growth Factor Receptor ◽  
Aggressive Fibromatosis ◽  
Undifferentiated Carcinoma ◽  
Clinicopathological Features ◽  
Gastric Body ◽  
Her2 Gene ◽  
Her2 Gene Amplification

Objective To study the clinicopathological features and differential diagnosis of gastrofibromatosis-like undifferentiated carcinoma (GFLUC). Methods Three patients with GFLUC underwent histological and immunophenotypic analyses and fluorescence in situ hybridization to detect human epidermal growth factor receptor ( HER2) gene amplification. Results Among the three patients (2 male [36 and 44 years old], 1 female [58 years old]), two had lesions in the gastric body and one had lesions in the gastric antrum. Histological analysis revealed mixtures of aggressive fibromatosis and undifferentiated carcinoma in all three cases. Highly invasive fibromatous tissue, consisting of fibroblasts, proliferating myofibroblasts, and collagenous fibrous tissues, accounted for >90% of the tumor, with undifferentiated cancerous tissue accounting for <10% scattered in the gaps within the invasive fibromatous tissue, with no glandular ducts or nests. Immunophenotypic analysis showed that the undifferentiated cancerous cells were positive for pan-cytokeratin, CDX2, villin, and p53, while the cytoplasm of invasive fibromatous cells was positive for vimentin, β-catenin, and smooth muscle actin. No HER2 gene amplification was detected. Conclusions Unlike other gastric carcinomas, GFLUC shows specific histological, biological, and immunophenotypic characteristics.

scholarly journals The Road to Better Management in Resistant Hypertension–Diagnostic and Therapeutic Insights

Pharmaceutics ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 714
Author(s):  
Elisabeta Bădilă ◽  
Cristina Japie ◽  
Emma Weiss ◽  
Ana-Maria Balahura ◽  
Daniela Bartoș ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Resistant Hypertension ◽  
Renin Angiotensin System ◽  
Drug Regimen ◽  
Secondary Hypertension ◽  
Adverse Outcomes ◽  
Uncontrolled Hypertension ◽  
White Coat Hypertension ◽  
Mineralocorticoid Receptor Antagonist ◽  
Mortality And Morbidity

Resistant hypertension (R-HTN) implies a higher mortality and morbidity compared to non-R-HTN due to increased cardiovascular risk and associated adverse outcomes—greater risk of developing chronic kidney disease, heart failure, stroke and myocardial infarction. R-HTN is considered when failing to lower blood pressure below 140/90 mmHg despite adequate lifestyle measures and optimal treatment with at least three medications, including a diuretic, and usually a blocker of the renin-angiotensin system and a calcium channel blocker, at maximally tolerated doses. Hereby, we discuss the diagnostic and therapeutic approach to a better management of R-HTN. Excluding pseudoresistance, secondary hypertension, white-coat hypertension and medication non-adherence is an important step when diagnosing R-HTN. Most recently different phenotypes associated to R-HTN have been described, specifically refractory and controlled R-HTN and masked uncontrolled hypertension. Optimizing the three-drug regimen, including the diuretic treatment, adding a mineralocorticoid receptor antagonist as the fourth drug, a β-blocker as the fifth drug and an α1-blocker or a peripheral vasodilator as a final option when failing to achieve target blood pressure values are current recommendations regarding the correct management of R-HTN.

scholarly journals Causes of Resistant Hypertension Detected by a Standardized Algorithm

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Livia Beatriz Santos Limonta ◽  
Letícia dos Santos Valandro ◽  
Flávio Gobis Shiraishi ◽  
Pasqual Barretti ◽  
Roberto Jorge da Silva Franco ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Resistant Hypertension ◽  
Secondary Hypertension ◽  
Control Blood Pressure ◽  
Primary Level ◽  
Standardized Protocol ◽  
Frequent Use ◽  
Drug Classes ◽  
Treatment Of Hypertension ◽  
Secondary Causes

Resistant hypertension (RH) is characterized by blood pressure above 140 × 90 mm Hg, despite the use, in appropriate doses, of three antihypertensive drug classes, including a diuretic, or the need of four classes to control blood pressure. Resistant hypertension patients are under a greater risk of presenting secondary causes of hypertension and may be benefited by therapeutical approach for this diagnosis. However, the RH is currently little studied, and more knowledge of this clinical condition is necessary. In addition, few studies had evaluated this issue in emergent countries. Therefore, we proposed the analysis of specific causes of RH by using a standardized protocol in Brazilian patients diagnosed in a center for the evaluation and treatment of hypertension. The management of these patients was conducted with the application of a preformulated protocol which aimed at the identification of the causes of resistant hypertension in each patient through management standardization. The data obtained suggest that among patients with resistant hypertension there is a higher prevalence of secondary hypertension, than that observed in general hypertensive ones and a higher prevalence of sleep apnea as well. But there are a predominance of obesity, noncompliance with diet, and frequent use of hypertensive drugs. These latter factors are likely approachable at primary level health care, since that detailed anamneses directed to the causes of resistant hypertension are applied.

Cerebral arteriopathy in ACTA2 mutations: a spectrum of disease highlighted by a case of variable penetrance in two siblings

2021 ◽  
pp. 1-6
Author(s):  
Christine Tschoe ◽  
Teddy E. Kim ◽  
Kyle M. Fargen ◽  
Stacey Q. Wolfe
Keyword(s):  
Moyamoya Disease ◽  
De Novo ◽  
Early Recognition ◽  
Smooth Muscle Actin ◽  
Amino Acid Replacement ◽  
Single Mutation ◽  
Cerebral Arteriopathy ◽  
And Performance ◽  
Actin Protein ◽  
Revascularization Procedures

Until recently, cerebral arteriopathy due to heterozygous mutations of the ACTA2 gene was considered a variant of moyamoya disease. However, radiographic analysis of patients with these mutations reveals a distinctive angiographic appearance from that seen in moyamoya disease. Several heterozygous missense ACTA2 mutations have been implicated in the development of this distinct cerebrovascular entity; however, the penetrance and systemic manifestations of these mutations vary based on the location of the amino acid replacement within the α–smooth muscle actin protein. The severity of the phenotype may also differ among patients within a single mutation type. There is limited literature on the safety and efficacy of revascularization procedures for ACTA2 arteriopathy, which have been limited to those patients with known Arg179His mutations. The authors provide a review of the breadth of mutations within the ACTA2 literature and report a case of two siblings with de novo ACTA2 Arg258Cys mutations with differing clinical courses, highlighting the utility of indirect revascularization with 8-year follow-up data. This case highlights the importance of early recognition of the angiographic appearance of ACTA2 cerebral arteriopathy and performance of genetic testing, as the location of the mutation impacts clinical presentation and outcomes.

Placental Mesenchymal Dysplasia

2007 ◽  
Vol 131 (1) ◽  
pp. 131-137 ◽  
Author(s):  
Zahida Parveen ◽  
Jane Elaine Tongson-Ignacio ◽  
Cory R. Fraser ◽  
Jeffery L. Killeen ◽  
Karen S. Thompson
Keyword(s):  
Differential Diagnosis ◽  
Clinical Presentation ◽  
Early Recognition ◽  
Data Sources ◽  
Molar Pregnancy ◽  
Close Attention ◽  
Normal Fetus ◽  
Fetal Complications ◽  
Microscopic Features ◽  
Placental Mesenchymal Dysplasia

Abstract Context.—Placental mesenchymal dysplasia is characterized by placentomegaly and may be mistaken for molar pregnancy both clinically and macroscopically because of the presence of “grapelike vesicles.” It may be associated with a completely normal fetus, a fetus with growth restriction, or a fetus with features of Beckwith-Wiedemann syndrome. Objective.—To review the etiology, molecular pathology, gross and microscopic features, clinical presentation, complications, and differential diagnosis of placental mesenchymal dysplasia. Data Sources.—The PubMed and the Medline databases were systematically searched for articles between 1970 and 2006. The following keywords were used: placental mesenchymal dysplasia, mesenchymal hyperplasia, molar pregnancy, pseudomolar pregnancy, Beckwith-Wiedemann syndrome, and placentomegaly. Relevant references from review articles were also searched. Conclusions.—Placental mesenchymal dysplasia should be considered in the differential diagnosis when the ultrasonographic findings show a cystic placenta. Close attention should be paid to fetal morphology for early recognition of fetal complications and to prevent unnecessary termination of pregnancy in cases associated with a normal fetus.

Caecal volvulus: untwisting the mystery

2021 ◽  
Vol 14 (3) ◽  
pp. e237165
Author(s):  
Martha Sara Kedrzycki ◽  
Jaya Roy Choudhury ◽  
Sherif Hakky
Keyword(s):  
Differential Diagnosis ◽  
Small Bowel ◽  
Closed Loop ◽  
Early Recognition ◽  
Case Series ◽  
University Hospital ◽  
Single Centre ◽  
Bowel Ischaemia ◽  
Prompt Treatment ◽  
Mobile Cecum

Caecal volvulus is an infrequent cause of acute surgical abdomen, where an abnormally mobile cecum twists on its own axis. It can lead to the development of closed-loop obstruction, small bowel ischaemia and perforation. Early recognition and prompt treatment is key; however, due to the rarity of this pathology, it is seldom listed as a differential diagnosis. Here, we present a single-centre case series of two patients presenting with caecal volvulus to an Emergency Surgery Unit at a University Hospital.

scholarly journals Spontaneously remitting insulin autoimmune syndrome in a patient taking alpha-lipoic acid

2018 ◽  
Vol 2018 ◽  
Author(s):  
D Cappellani ◽  
C Sardella ◽  
M C Campopiano ◽  
A Falorni ◽  
P Marchetti ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Lipoic Acid ◽  
University Hospital ◽  
Hypoglycaemic Episode ◽  
List Type ◽  
Alpha Lipoic Acid ◽  
Previous Exposure ◽  
Hyperinsulinaemic Hypoglycaemia ◽  
Insulin Autoimmune Syndrome ◽  
Autoimmune Syndrome

Summary Insulin autoimmune syndrome (IAS), or Hirata disease, is a rare hypoglycaemic disorder caused by the presence of high titer of insulin autoantibodies (IAA) in patients without previous exposure to exogenous insulin. Even though its pathogenesis is not fully understood, striking evidences link IAS to previous exposure to sulphydryl-containing medications, like alpha-lipoic acid, a widely used nutritional supplement. Although challenging, a careful differential diagnosis from other causes of hyperinsulinaemic hypoglycaemia (such as insulinoma) is mandatory, since these conditions require different therapeutic approaches. In the present study, we report a 35-year-old woman originally from Sri Lanka who was referred to our University Hospital on suspicion of occult insulinoma. Her medical history was positive for endometriosis, treated with estroprogestins and alpha-lipoic acid. The latter supplement was begun 2 weeks before the first hypoglycaemic episode. Our tests confirmed the presence of hypoglycaemia associated with high insulin and C-peptide concentrations. When insulin concentrations were compared using different assays, the results were significantly different. Moreover, insulin values significantly decreased after precipitation with polyethylene glycol. An assay for IAA proved positive (530 U/mL). A genetic analysis revealed the presence of HLA-DRB1*04,15, an immunogenetic determinant associated with IAS. On the basis of clinical data we avoided a first-line approach with immunosuppressive treatments, and the patient was advised to modify her diet, with the introduction of frequent low-caloric meals. During follow-up evaluations, glucose levels (registered trough a flash glucose monitoring system) resulted progressively more stable. IAA titer progressively decreased, being undetectable by the fifteenth month, thus indicating the remission of the IAS. Learning points: Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinaemic hypoglycaemia, whose prevalence is higher in East Asian populations due to the higher prevalence of specific immunogenetic determinants. Nevertheless, an increasing number of IAS cases is being reported worldwide, due to the wide diffusion of medications such as alpha-lipoic acid. Differential diagnosis of IAS from other causes of hyperinsulinemic hypoglycaemia is challenging. Even though many tests can be suggestive of IAS, the gold standard remains the detection of IAAs, despite that dedicated commercial kits are not widely available. The therapeutic approach to IAS is problematic. As a matter of fact IAS is often a self-remitting disease, but sometimes needs aggressive immunosuppression. The benefits and risks of any therapeutic choice should be carefully weighted and tailored on the single patient.

scholarly journals Adrenocortical carcinoma masquerading as pheochromocytoma: a histopathologic dilemma

2020 ◽  
Vol 2020 ◽  
Author(s):  
Impana Shetty ◽  
Sarah Fuller ◽  
Margarita Raygada ◽  
Maria J Merino ◽  
B J Thomas ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Differential Diagnosis ◽  
Lynch Syndrome ◽  
Adrenocortical Carcinoma ◽  
Renal Carcinoma ◽  
Thoracoscopic Surgery ◽  
Adrenal Adenoma ◽  
Wedge Resection ◽  
Genetic Profile ◽  
List Type

Summary Adrenocortical carcinoma (ACC) is an aggressive cancer that originates in the cortex of the adrenal gland and generally has a poor prognosis. ACC is rare but can be more commonly seen in those with cancer predisposition syndromes (e.g. Li-Fraumeni and Lynch Syndrome). The diagnosis of ACC is sometimes uncertain and it requires the use of precise molecular pathology; the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. We describe a case of a 57-year-old woman with Lynch Syndrome and metastatic ACC who was initially diagnosed as having pheochromocytoma. The tumor was first identified at 51 years of age by ultrasound followed by a CT scan. She underwent a left adrenalectomy, and the histopathology identified pheochromocytoma. Two years later, she had tumor recurrence with imaging studies showing multiple lung nodules. Following a wedge resection by video-assisted thoracoscopic surgery (VATS), histopathology was read as metastatic pheochromocytoma at one institution and metastatic ACC at another institution. She later presented to the National Institutes of Health (NIH) where the diagnosis of ACC was confirmed. Following her ACC diagnosis, she was treated with mitotane and pembrolizumab which were stopped due to side effects and progression of disease. She is currently receiving etoposide, doxorubicin, and cisplatin (EDP). This case highlights the importance of using a multi-disciplinary approach in patient care. Thorough evaluation of the tumor’s pathology and analysis of the patient’s genetic profile are necessary to obtain the correct diagnosis for the patient and can significantly influence the course of treatment. Learning points: Making the diagnosis of ACC can be difficult as the differential diagnosis includes pheochromocytoma, adrenal adenoma, renal carcinoma, or hepatocellular carcinoma. Patients with Lynch Syndrome should undergo surveillance for ACC as there is evidence of an association between Lynch Syndrome and ACC. Conducting a complete tumor immunoprofile and obtaining a second opinion is very important in cases of suspected ACC in order to confirm the proper diagnosis. A multi-disciplinary approach including genetic testing and a thorough evaluation of the tumor’s pathology is imperative to ensuring that the patient receives an accurate diagnosis and the appropriate treatment.

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