scholarly journals Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

2020 ◽  
Vol 21 (9) ◽  
pp. 3109
Author(s):  
Irma Machuca-Gayet ◽  
Thomas Quinaux ◽  
Aurélia Bertholet-Thomas ◽  
Ségolène Gaillard ◽  
Débora Claramunt-Taberner ◽  
...  
Keyword(s):  
Bone Disease ◽  
Bone Cells ◽  
Future Research ◽  
Nephropathic Cystinosis ◽  
Gene Encoding ◽  
Renal Fanconi Syndrome ◽  
Metabolic Bone ◽  
Lysosomal Accumulation ◽  
Stage Renal Disease ◽  
End Stage

Patients with chronic kidney disease (CKD) display significant mineral and bone disorders (CKD-MBD) that induce significant cardiovascular, growth and bone comorbidities. Nephropathic cystinosis is an inherited metabolic disorder caused by the lysosomal accumulation of cystine due to mutations in the CTNS gene encoding cystinosin, and leads to end-stage renal disease within the second decade. The cornerstone of management relies on cysteamine therapy to decrease lysosomal cystine accumulation in target organs. However, despite cysteamine therapy, patients display severe bone symptoms, and the concept of “cystinosis metabolic bone disease” is currently emerging. Even though its exact pathophysiology remains unclear, at least five distinct but complementary entities can explain bone impairment in addition to CKD-MBD: long-term consequences of renal Fanconi syndrome, malnutrition and copper deficiency, hormonal disturbances, myopathy, and intrinsic/iatrogenic bone defects. Direct effects of both CTNS mutation and cysteamine on osteoblasts and osteoclasts are described. Thus, the main objective of this manuscript is not only to provide a clinical update on bone disease in cystinosis, but also to summarize the current experimental evidence demonstrating a functional impairment of bone cells in this disease and to discuss new working hypotheses that deserve future research in the field.

scholarly journals Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts

Cells ◽  
2022 ◽  
Vol 11 (1) ◽  
pp. 170
Author(s):  
Dieter Haffner ◽  
Maren Leifheit-Nestler ◽  
Candide Alioli ◽  
Justine Bacchetta
Keyword(s):  
Muscle Wasting ◽  
Bone Cells ◽  
Interleukin 1 ◽  
Bone Defects ◽  
Hypophosphatemic Rickets ◽  
Nephropathic Cystinosis ◽  
Renal Fanconi Syndrome ◽  
Metabolic Bone ◽  
Cellular Bone

Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life in teenagers and adults with INC. Its underlying pathophysiology is complex and multifactorial, associating complementary, albeit distinct entities, in addition to ordinary mineral and bone disorders observed in other types of chronic kidney disease. Amongst these long-term consequences are renal Fanconi syndrome, hypophosphatemic rickets, malnutrition, hormonal abnormalities, muscular impairment, and intrinsic cellular bone defects in bone cells, due to CTNS mutations. Recent research data in the field have demonstrated abnormal mineral regulation, intrinsic bone defects, cysteamine toxicity, muscle wasting and, likely interleukin-1-driven inflammation in the setting of CMBD. Here we summarize these new pathophysiological deregulations and discuss the crucial interplay between bone and muscle in INC. In future, vitamin D and/or biotherapies targeting the IL1β pathway may improve muscle wasting and subsequently CMBD, but this remains to be proven.

scholarly journals Biotin supplement interference with immunoassays for parathyroid hormone and 25-hydroxyvitamin D in a patient with metabolic bone disease on maintenance hemodialysis

2019 ◽  
Vol 13 (4) ◽  
pp. 710-712
Author(s):  
Richard A Plasse ◽  
Stephen W Olson ◽  
Christina M Yuan ◽  
Robert Nee
Keyword(s):  
Parathyroid Hormone ◽  
Endocrine Function ◽  
Maintenance Hemodialysis ◽  
Hydroxyvitamin D ◽  
Metabolic Bone ◽  
25 Hydroxyvitamin D ◽  
Stage Renal Disease ◽  
End Stage ◽  
The Impact ◽  
Affect Patient Care

Abstract Biotin (vitamin B7) is a dietary supplement that can lead to falsely abnormal endocrine function tests. The impact of biotin on both 25-hydroxyvitamin D [25(OH)D] and intact parathyroid hormone (iPTH) have not been previously described in end-stage renal disease (ESRD). A woman with ESRD on hemodialysis taking biotin 10 mg daily had a 25(OH)D spike from 25 to >100 ng/mL and an iPTH decrease from 966 to 63 pg/mL. After discontinuation of biotin, her 25(OH)D and iPTH returned to baseline. Biotin can cause erroneous 25(OH)D and iPTH results in ESRD that could adversely affect patient care.

Concomitant Use of Gabapentinoids with Opioids Is Associated with Increased Mortality and Morbidity among Dialysis Patients

2020 ◽  
Vol 51 (6) ◽  
pp. 424-432 ◽  
Author(s):  
Salina P. Waddy ◽  
Adan Z. Becerra ◽  
Julia B. Ward ◽  
Kevin E. Chan ◽  
Chyng-Wen Fwu ◽  
...  
Keyword(s):  
The United States ◽  
Future Research ◽  
Dialysis Patients ◽  
Mortality And Morbidity ◽  
Medication Prescription ◽  
Risk Of Death ◽  
Increased Risk ◽  
Stage Renal Disease ◽  
End Stage ◽  
Dialysis Discontinuation

Background: The opioid epidemic is a public health emergency and appropriate medication prescription for pain remains challenging. Physicians have increasingly prescribed gabapentinoids for pain despite limited evidence supporting their use. We determined the prevalence of concomitant gabapentinoid and opioid prescriptions and evaluated their associations with outcomes among dialysis patients. Methods: We used the United States Renal Data System to identify patients treated with dialysis with Part A, B, and D coverage for all of 2010. Patients were grouped into 4 categories of drugs exposure status in 2010: (1) no prescriptions of either an opioid or gabapentinoid, (2) ≥1 prescription of an opioid and no prescriptions of gabapentinoids, (3) no prescriptions of an opioid and ≥1 prescription of gabapenbtinoids, (4) ≥1 prescription of both an opioid and gabapentinoid. Outcomes included 2-year all-cause death, dialysis discontinuation, and hospitalizations assessed in 2011 and 2012. Results: The study population included 153,758 dialysis patients. Concomitant prescription of an opioid and gabapentin (15%) was more common than concomitant prescription of an opioid and pregabalin (4%). In adjusted analyses, concomitant prescription of an opioid and gabapentin compared to no prescription of either was associated with increased risk of death (hazard ratio [HR] 1.16, 95% CI 1.12–1.19), dialysis discontinuation (HR 1.14, 95% CI 1.03–1.27), and hospitalization (HR 1.33, 95% CI 1.31–1.36). Concomitant prescription of an opioid and pregabalin compared to no prescription of either was associated with increased mortality (HR 1.22, 95% CI 1.16–1.28) and hospitalization (HR 1.37, 95% CI 1.33–1.41), but not dialysis discontinuation (HR 1.13, 95% CI 0.95–1.35). Prescription of opioids and gabepentinoids compared to only being prescribed opioids was associated with higher risk of hospitalizations, but not mortality, or dialysis discontinuation. Conclusions: Concomitant prescription of opioids and gabapentinoids among US dialysis patients is common, and both drugs have independent effects on outcomes. Future research should prospectively investigate the potential harms of such drugs and identify safer alternatives for treatment of pain in end-stage renal disease patients.

scholarly journals Nurse’s Experience As Educator in Hemodialysis Care to End Stage Renal Disease Patient in Hospital X: a Phenomenology Study

2019 ◽  
Author(s):  
Karolus Yosef Woitila Wangi ◽  
Dessy Permata Sela ◽  
Christina Evi Ambarsar
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Esrd Patient ◽  
Disease Patient ◽  
Lifestyle Changes ◽  
Future Research ◽  
Ethical Perspective ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

End Stage Renal Disease (ESRD) is progressive and irreversible damage to kidney function,which can reduce the quality of life of patients and death due to accumulation of uremia toxins in the blood. Hemodialysis is a temporary therapy used to prolong the life of the patient. The uncertainty of the treatment provides a unique response which became an interesting phenomenon for researchers to conduct research Sethe qualitative strategy for explore the nurses’ experience and to describe it especially in the nurses’ role as educator in hemodialysis care to ESRD patient in Hospital X.Aim of this study to provide an overview of nurse’s experience as educator in ESRD patients during hemodialysis therapy in the Hemodialysis Unit Hospital X. this research used a qualitative method with a phenomenological approach has been conducted. The data collection technique used was using in-depth interviews. A purposive sampling was used to recruited the participant and, namely ten nurses were involded in this study with inclusion critearia as follows: (1) work as an executive nurse in HD unit, (2) have minimum Diploma III as basic education level. Data analysis using Colaizzi’s method and then using thematic analysis. Four themes were found in this study: lifestyle changes, uncooperative patients, responsive patients, and patients do not want to stop dialysis. Future research can be conduct in fourth theme concerning withdrawal dialysis in ESRD patients in various perspectives including: ethical perspective and decision making for futile treatment, health coverage policies, and palliative care.

scholarly journals Medical Foods: Science, Regulation, and Practical Aspects. Summary of a Workshop

2020 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Jennifer L Holmes ◽  
Alexandre Biella ◽  
Timothy Morck ◽  
Jena Rostorfer ◽  
Barbara Schneeman
Keyword(s):  
Product Innovation ◽  
Intractable Epilepsy ◽  
Future Research ◽  
Science Regulation ◽  
Inflammatory Bowel ◽  
Medical Foods ◽  
Stage Renal Disease ◽  
End Stage

ABSTRACT On August 13–14, 2019, the Healthcare Nutrition Council and the ASN held the Medical Foods Workshop: Science, Regulation, and Practical Aspects. Medical food products help patients manage their disease and improve their quality of life. Yet many hurdles exist to getting patients new products. In this workshop, participants addressed some of these hurdles, with specific emphasis on topics like the statutory term distinctive nutritional requirements, the regulatory term modification of the diet alone, the role of clinical guidelines, the requirement that medical foods be used under medical supervision, and differentiation of foods for special dietary use from medical foods, as well as product innovation and future research. Real-world examples were discussed for intractable epilepsy, diabetes, end-stage renal disease, and inflammatory bowel disease.

scholarly journals Depressive symptoms and dietary non-adherence among end stage renal disease patients undergoing hemodialysis therapy: systematic review

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Mignote Hailu Gebrie ◽  
Jodi Ford
Keyword(s):  
Systematic Review ◽  
Depressive Symptoms ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Longitudinal Design ◽  
Future Research ◽  
Stage Renal Disease ◽  
End Stage ◽  
The Relationship ◽  
Esrd Patients

Abstract Background Research suggests that patients with end stage renal disease undergoing hemodialysis have a higher rate of depression and dietary non adherence leading to hospitalization and mortality. The purpose of this review was to synthesize the quantitative evidence on the relationship between depressive symptoms and dietary non adherence among end stage renal disease (ESRD) patients receiving hemodialysis. Methods A systematic review was undertaken. Three electronic databases were searched including PubMed, CINHAL and Web of Science. Only quantitative studies published between 2001 and 2016 were included in the review. Result A total of 141 publications were reviewed during the search process and 28 articles that fulfilled the inclusion criteria were included in the review. Eleven studies (39.3%) reported on the prevalence of depressive symptoms or depression and its effect on patient outcomes. Ten studies (35.7%) focused on dietary adherence/non adherence in patients with ESRD and the remaining seven (25%) articles were descriptive studies on the relationship between depressive symptoms and dietary non adherence in patients with ESRD receiving hemodialysis. The prevalence of depressive symptoms and dietary non adherence ranged as 6–83.49% and from 41.1–98.3% respectively. Decreased quality of life & increased morbidity and mortality were positively associated with depressive symptoms. Other factors including urea, hemoglobin, creatinine and serum albumin had also association with depressive symptoms. Regarding dietary non adherence, age, social support, educational status, behavioral control and positive attitudes are important factors in ESRD patients receiving hemodialysis. Having depressive symptoms is more likely to increase dietary non adherence. Conclusion Depressive symptoms and dietary non adherence were highly prevalent in patients with end stage renal disease receiving hemodialysis therapy. Nearly all of the articles that examined the relationship between depressive symptoms and dietary non adherence found a significant association. Future research using experimental or longitudinal design and gold standard measures with established cut-points is needed to further explain the relationship.

scholarly journals Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report

2021 ◽  
pp. 362-366
Author(s):  
Mohammad Khaled Alsultan ◽  
Zeina Nizar Bdeir ◽  
Qussai Hassan ◽  
Tahani Ali
Keyword(s):  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Nephropathic Cystinosis ◽  
Dialysis Access ◽  
Type Iii ◽  
First Case ◽  
New Association ◽  
Stage Renal Disease ◽  
End Stage ◽  
Von Willebrand

Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of choice of NC and superior to chronic HD, bleeding complications were a major concern in this case with coexisting VWD type III. However, with the meticulous implementation of the Hematology team’s daily recommendations, renal transplantation was successfully performed. This is the first case that mentions a new association between two inherited rare disorders, NC and VWD type III, and this entity has not been reported before. Moreover, successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders.

Potential role of extracellular vesicles in the pathophysiology of glomerular diseases

2020 ◽  
Vol 134 (20) ◽  
pp. 2741-2754
Author(s):  
Xia-Qing Li ◽  
Lilach O. Lerman ◽  
Yu Meng
Keyword(s):  
Extracellular Vesicles ◽  
Biological Fluids ◽  
Management Strategies ◽  
Renal Diseases ◽  
Future Research ◽  
Target Cells ◽  
Glomerular Diseases ◽  
Stage Renal Disease ◽  
End Stage

Abstract Extracellular vesicles (EVs) are membrane-bound vesicles released by most cells and are found in diverse biological fluids. The release of EVs provides a new mechanism for intercellular communication, allowing cells to transfer their functional cargoes to target cells. Glomerular diseases account for a large proportion of end-stage renal disease (ESRD) worldwide. In recent years, an increasing number of research groups have focused their effort on identifying the functional role of EVs in renal diseases. However, the involvement of EVs in the pathophysiology of glomerular diseases has not been comprehensively described and discussed. In this review, we first briefly introduce the characteristics of EVs. Then, we describe the involvement of EVs in the mechanisms underlying glomerular diseases, including immunological and fibrotic processes. We also discuss what functions EVs derived from different kidney cells have in glomerular diseases and how EVs exert their effects through different signaling pathways. Furthermore, we summarize recent advances in the knowledge of EV involvement in the pathogenesis of various glomerular diseases. Finally, we propose future research directions for identifying better management strategies for glomerular diseases.

Acquired Structural Genitourinary Abnormalities Contributing to Deterioration of Renal Function in Older Patients with Nephropathic Cystinosis

PEDIATRICS ◽  
1991 ◽  
Vol 88 (6) ◽  
pp. 1238-1241
Author(s):  
C. Frederic Strife ◽  
Janet L. Strife ◽  
Jeffrey Wacksman
Keyword(s):  
Renal Function ◽  
Outlet Obstruction ◽  
Nephropathic Cystinosis ◽  
Older Children ◽  
Renal Cystic Disease ◽  
Natural Progression ◽  
Structural Abnormalities ◽  
Rate Of Decline ◽  
Stage Renal Disease ◽  
End Stage

The natural progression of nephropathic cystinosis to end stage renal disease can be delayed, sometimes by many years, by the reducing agent, cysteamine. which lowers intracellular cystine content to near normal. We report on two patients with nephropathic cystinosis who were treated with cysteamine and developed structural genitourinary abnormalities which may have contributed to an increase in the rate of decline of renal function. One patient, aged 11 years, was found to have massive megacystis and hydroureteronephrosis but no anatomic bladder outlet obstruction. His abnormality was presumed to be related to chronic high urine volumes leading to megacystis and physiologic ureteral obstruction. Vesicostomy stabilized renal function. The second patient, aged 11½years, was found to have bilateral renal cystic disease which presumably was acquired and may have been related to long-standing hypokalemia. Minor renal abnormalities were found by ultrasound in five additional cystinotic children. We concluded that older children with nephropathic cystinosis may be prone to acquire structural abnormalities of their kidneys or urinary tract.

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