Skin Examination: An Important Diagnostic Tool in Renal Failure Patients

2018 ◽  
Vol 45 (1-3) ◽  
pp. 187-193 ◽  
Author(s):  
Karen M. Van de Velde-Kossmann
Keyword(s):  
Renal Failure ◽  
Renal Disease ◽  
Genetic Disorders ◽  
The United States ◽  
Underlying Disease ◽  
Careful Examination ◽  
Common Skin ◽  
Important Diagnostic Tool ◽  
Stage Renal Disease ◽  
End Stage

Renal failure is common in the United States with an estimated prevalence of 660,000 treated end-stage renal disease patients in 2015 [<xref ref-type="bibr" rid="ref1">1</xref>]. Causes of renal failure are many, and complications from renal failure, underlying disease, and treatment are not infrequent. Examples of common skin manifestations include xerosis, pigmentary change, and nail dystrophies. Frequent disease-specific skin changes may be helpful in the diagnosis of primary disorders leading to renal disease or severity of disease including bullosis diabeticorum, sclerodactyly, or leukoctoclastic vasculitis. Some cutaneous changes, such as the multiple angiokeratomas of Fabry disease or the plexiform neurofibromas of neurofibromatosis, are pathognomonic of genetic disorders, which often lead to renal failure. Careful examination of the skin can provide crucial clues to diagnosis of renal failure causation and aid in monitoring complications.

scholarly journals INF2 p.Arg214Cys mutation in a Chinese family with rapidly progressive renal failure and follow-up of renal transplantation: case report and literature review

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Wenbo Zhao ◽  
Xinxin Ma ◽  
Xiaohao Zhang ◽  
Dan Luo ◽  
Jun Zhang ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Disease ◽  
Autosomal Dominant ◽  
Mutational Analysis ◽  
Elevated Serum ◽  
Chinese Family ◽  
Progressive Renal Failure ◽  
Rapidly Progressive Renal Failure ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background Heterozygous mutations in the inverted formin 2 (INF2) gene are related to secondary focal segmental glomerulosclerosis (FSGS), a rare secondary disease associated with rapidly progressive renal failure. Case presentation We report a patient with familial autosomal INF2 mutation manifesting nephritic syndromes and elevated serum creatinine levels. Mutational analysis revealed an autosomal dominant (AD) inheritance pattern and a mutation in exon 4 (p.Arg214Cys) of INF2 as the likely cause, which has not been previously described in an Asian family. The patient progressed to end-stage renal disease (ESRD) and received hemodialysis. His mother had undergone renal transplant 3 years earlier, and his grandmother had carried the p.Arg214Cys mutation for more than 80 years without any sign of renal dysfunction. Conclusions This is the first report to identify an association between a familial autosomal dominant INF2 p.Arg214Cys mutation and rapidly progressive renal disease in an Asian family. INF2 mutation analysis should not be restricted to individuals without family history of FSGS, rather it should also be performed on individuals for whom drug-based therapies are not effective. In this case, kidney transplant is an effective alternative.

scholarly journals Pre-End-Stage Renal Disease Care Not Associated with Dialysis Facility Neighborhood Poverty in the United States

2014 ◽  
Vol 39 (1) ◽  
pp. 50-58 ◽  
Author(s):  
Laura C. Plantinga ◽  
Min Kim ◽  
Margarethe Goetz ◽  
David G. Kleinbaum ◽  
William McClellan ◽  
...  
Keyword(s):  
United States ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
The United States ◽  
Neighborhood Poverty ◽  
Dialysis Facility ◽  
Stage Renal Disease ◽  
End Stage

P97 An uncommon reason of end stage renal disease: 3 cases with joubert syndrome and renal failure

2017 ◽  
Author(s):  
Aysun Karabay Bayazit ◽  
Bahriye Atmi&scedil; ◽  
Engin Melek ◽  
Abdulsamet Ala ◽  
Merve Sapmaz ◽  
...  
Keyword(s):  
Renal Failure ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Joubert Syndrome ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Acute Intradialytic Complications in End Stage Renal Disease on Maintenance Hemodialysis

2012 ◽  
Vol 52 (187) ◽  
Author(s):  
R K Agrawal ◽  
S Khakurel ◽  
R Hada ◽  
D Shrestha ◽  
A Baral
Keyword(s):  
Renal Failure ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Tertiary Care ◽  
Cross Sectional Study ◽  
Maintenance Hemodialysis ◽  
Care Hospital ◽  
Cross Sectional ◽  
Stage Renal Disease ◽  
End Stage

Introduction: Hemodialysis is the preferred method of treatment for Nepalese patients with End Stage Renal Disease. Despite the technological advances and better understanding of physiology associated with hemodialysis, a number of complications are known to be associated with hemodialysis. This study was undertaken to study the frequency of acute intradialytic complications in patients undergoing hemodialysis. Methods: A cross-sectional study was conducted at Nephrology unit of a tertiary care hospital from 15 June, 2007 to 15 December, 2007. A total of 28 patients were included in the study. Patients with acute renal failure and acute on chronic renal failure were excluded from the study. Results: Total sessions of hemodialysis during the period were 1455. Hypotensive episode were 66 (4.5%) and was the commonest complication and followed by hypertensive episodes were 58 (3.8%). Other problems encountered were transfusion reactions were 23 episodes (1.5%), rigors not related to transfusions were 13 episodes (0.8%), nausea/vomiting were 20 episodes (1.4%), muscle cramps were 12 episodes (0.8%), hypoglycemia were 6 episodes 5(0.4%). Conclusions: The frequency of intradialytic complications is low and many of them are not life threatening. Keywords: complications; end stage renal disease; hemodialysis; hypertension; hypotension.

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