scholarly journals Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Henry Trier ◽  
Vikram P. Krishnasamy ◽  
Pashtoon Murtaza Kasi
Keyword(s):  
End Stage Renal Disease ◽  
Laboratory Testing ◽  
Biosynthetic Pathway ◽  
Clinical Manifestations ◽  
Definitive Diagnosis ◽  
Enzyme Deficiency ◽  
Different Types ◽  
Acute Porphyrias ◽  
Stage Renal Disease ◽  
End Stage

The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward.

scholarly journals Clinical Manifestations of Cardiac Disease in Patients with End Stage Renal Disease Under Maintenance Hemodialysis in a Tertiary Level Hospital of Nepal

2016 ◽  
Vol 15 (1) ◽  
pp. 61-65
Author(s):  
Kumar Roka ◽  
Pratibha Bista Roka
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Low Voltage ◽  
Clinical Manifestations ◽  
Left Ventricular Diastolic Dysfunction ◽  
Left Ventricular ◽  
Maintenance Hemodialysis ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Introduction: End stage renal disease presents with multiple clinical and systemic manifestations. The aim of the present study was to identify the early cardiac and other morbidities in end stage renal disease (ESRD) patients who were under maintenance hemodialysis.Methods: This was an observational, prospective study conducted in fifty established ESRD patients of 20 to 74 years under maintenance hemodialysis in Nephrology unit of Shree Birendra Hospital. Clinical examination, laboratory parameters, electrocardiogram and echocardiography findings were used to identify the morbidities. Results: Among all patients enrolled in the study 88.7% had anemia, 64.2 % systolic murmurs, 62.26 % pedal edema, 73.6 % fatiguability, 71.7 % angina, 24.4 % palpitations and 13.2 % had breathlessness on exertion.  62.26% of the patients had hypertension and 13.20 % had diabetes. In the electrocardiogram, prolonged QTc was observed in 10.4%, followed by T wave inversion in 9.4 % and finally low voltage complex comprised 7.6 %. The echocardiogram showed left ventricular diastolic dysfunction in 58.5 %, left ventricular hypertrophy (overall type) 49 % and valvular lesion like mitral regurgitation and tricuspid regurgitation 83 % and 58.5 % respectively. Conclusion: Cardiac co-morbidities are common in patients diagnosed with ESRD on maintenance hemodialysis.

scholarly journals Clinical Presentation, Renal Histopathological Findings, and Outcome in Patients with Monoclonal Gammopathy and Kidney Disease

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Gaetano Alfano ◽  
Alice Delrio ◽  
Francesco Fontana ◽  
Giacomo Mori ◽  
Silvia Cazzato ◽  
...  
Keyword(s):  
Kidney Disease ◽  
End Stage Renal Disease ◽  
Monoclonal Gammopathy ◽  
Kidney Biopsy ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
M Protein ◽  
Monoclonal Gammopathies ◽  
Stage Renal Disease ◽  
End Stage

Monoclonal gammopathies are associated with acute and chronic kidney injury. Nephrotoxicity of the secreted monoclonal (M)-protein is related to its biological properties and blood concentration. Little is known about epidemiology, clinical manifestations, and outcome of monoclonal gammopathies in patients with kidney disease. We retrospectively collected data about demographics, clinical manifestations, and renal histological lesions of all patients (n = 1334) who underwent kidney biopsy between January 2000 and March 2017. Monoclonal gammopathy was detected in 174 (13%) patients with a mean age of 66.4 ± 13.1 years. The spectrum of monoclonal gammopathies comprised monoclonal gammopathy of undetermined significate (MGUS) (52.8%), multiple myeloma (MM) (25.2%), primary amyloidosis (AL) (9.1%), smoldering MM (SMM) (4%), non-Hodgkin lymphoma (NHL) (6.8%), and Hodgkin lymphoma (HL) (1.7%). Monoclonal gammopathy of renal significance (MGRS) accounted for 6.5% in patients with MGUS and 14.2% in patients with SMM. Evaluation of kidney biopsy revealed that M-protein was directly involved in causing kidney injury in MM (93.1%). MM was the only gammopathy significantly associated with an increased risk of kidney injury (odds ratio [OR] = 47.5, CI 95%, 13.7–164.9; P ≤ 0.001 ). While there were no significant differences in the progression toward end-stage renal disease or dialysis P = 0.776 , monoclonal gammopathies were associated with a different risk of death P = 0.047 at the end of the follow-up. In conclusion, monoclonal gammopathy was a frequent finding (13%) in patients who underwent kidney biopsy. M-protein was secreted by both premalignant (56.8%) and malignant (43.2%) lymphoproliferative clones. Kidney biopsy had a key role in identifying MGRS in patients with MGUS (6.5%) and SMM (14.2%). Among monoclonal gammopathies, only MM was significantly associated with biopsy-proven kidney injury. The rate of end-stage renal disease or dialysis was similar among monoclonal gammopathies, whereas NHL, MM, and SMM showed a higher rate of deaths.

Epidemiology of kidney disease

2015 ◽  
Author(s):  
Aminu Bello ◽  
Marcello Tonelli ◽  
Kitty Jager
Keyword(s):  
Chronic Kidney Disease ◽  
Acute Kidney Injury ◽  
Kidney Disease ◽  
End Stage Renal Disease ◽  
Kidney Injury ◽  
Different Types ◽  
Future Challenges ◽  
Using Data ◽  
Stage Renal Disease ◽  
End Stage

Renal epidemiology has moved from a focus on patients treated with renal replacement therapy using data from renal registries, to a much broader view of acute and chronic kidney disease. A review of essential epidemiological concepts and principles is followed by discussion of the epidemiology of different types of kidney disease: acute kidney injury, chronic kidney disease, and end-stage renal disease. The chapter concludes with a section on future challenges and potential solutions.

scholarly journals Common mucocutaneous manifestations of patients with End Stage Renal Disease: A comprehensive review study

2021 ◽  
Vol 15 (6) ◽  
pp. 1970-1974
Author(s):  
Seyed-Mohamad-Sadegh Mirahmadi ◽  
Kimia Saleh Anaraki ◽  
Azadeh Goodarzi
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Clinical Manifestations ◽  
Careful Study ◽  
Skin Manifestations ◽  
Wide Range ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients ◽  
Pigmentation Disorders

One of the notable points in ESRD patients is the multiplicity of skin manifestations which can include a wide range. It can also affect the living standards of patients due to its many types and severity. Careful study, as well as intense follow-up of these manifestations, can help physicians in timely diagnosis and their control or treatment. In this study, we tried to study the common mucocutaneous manifestations that occur in these patients. All references can be searched from PubMed. Sources of this study have been studied for clinical manifestations, pathophysiology, and treatment of skin manifestations in ESRD patients. In this study, xerosis, pruritus, pigmentation disorders, half and half nails, perforating disorder, and skin infections as well as appendageal disorders (hair and nail) in ESRD patients have been studied. These can be associated with other diseases and increase by disease severity. For better results and more help to patients with this disease, it seems that more and more comprehensive studies are needed. Key words: End stage renal disease, ESRD, mucucutaneous, skin, dermatology, xerosis, pigmentation disorders, infection, perforating disorder, half and half nails

Sign in / Sign up

Export Citation Format

Share Document