scholarly journals Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Giuseppe Gambino ◽  
Concetta Catalano ◽  
Martina Marangoni ◽  
Caroline Geers ◽  
Alain Le Moine ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Case Report ◽  
Renal Transplantation ◽  
End Stage Renal Disease ◽  
Early Onset ◽  
Unknown Origin ◽  
Pathogenic Variant ◽  
Biliary Cirrhosis ◽  
Stage Renal Disease ◽  
End Stage

Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene.Case Description: A 47-year-old patient started hemodialysis for chronic kidney disease (CKD) of unknown origin. She presented with early onset of hypertension, pre-eclampsia, myopia and cirrhosis. Renal biopsy showed mild interstitial fibrosis, tubular atrophy, and moderate arteriosclerosis while liver pathology demonstrates grade B biliary cirrhosis. Family history revealed several cases of early-onset severe hypertension and one case of end-stage renal disease (ESRD) needing kidney transplantation at twenty years of age. Clinical exome sequencing showed homozygosis for the pathogenic variant c.626C>T (p.Pro209Leu) in the TTC21B gene. The patient underwent combined liver-renal transplantation with an excellent renal and hepatic graft outcome.Conclusions:TTC21B gene mutations can lead heterogeneous to clinical manifestations and represent an underappreciated cause of ESRD. The paradigm in diagnosis of CKD of early onset and/or of unknown origin is changing and genetic counseling should be performed in all patients and families that meet those criteria. Renal or combined liver-renal transplantation represents the best option for patients suffering from those diseases in terms of prognosis and quality of life.

scholarly journals Decompensated Cirrhosis after Renal Transplantation: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-2 ◽  
Author(s):  
Vinay Patel ◽  
Luis Marsano ◽  
Mary Eng
Keyword(s):  
Liver Transplantation ◽  
Renal Failure ◽  
Kidney Transplantation ◽  
Case Report ◽  
Renal Transplantation ◽  
End Stage Renal Disease ◽  
Decompensated Cirrhosis ◽  
End Stage Liver Disease ◽  
Stage Renal Disease ◽  
End Stage

Patients with end-stage liver disease with renal failure can be considered for simultaneous liver kidney transplantation. There are, however, no clear guidelines as to the management of the well-compensated cirrhotic patient with end-stage renal disease. We present the case of a patient with cirrhosis who decompensated after renal transplantation. With no indication for liver transplantation, can these patients safely undergo renal transplantation?

scholarly journals Effects of renal transplantation on erectile dysfunction: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Irham Arif Rahman ◽  
Nur Rasyid ◽  
Ponco Birowo ◽  
Widi Atmoko
Keyword(s):  
Systematic Review ◽  
Erectile Dysfunction ◽  
Kidney Transplantation ◽  
Renal Transplantation ◽  
End Stage Renal Disease ◽  
Erectile Function ◽  
Meta Analysis ◽  
Post Transplantation ◽  
Stage Renal Disease ◽  
End Stage

AbstractErectile dysfunction (ED) is a major global health burden commonly observed in patients with end-stage renal disease (ESRD). Although renal transplantation improves the problem in some patients, it persists in ≈20–50% of recipients. Studies regarding the effects of kidney transplantation on ED present contradictory findings. We performed a systematic review to summarise the effects of kidney transplantation on ED. A systematic literature search was performed across PubMed, Cochrane, and Scopus databases in April 2020. We included all prospective studies that investigated the pre and posttransplant international index of erectile function (IIEF-5) scores in recipients with ED. Data search in PubMed and Google Scholar produced 1326 articles; eight were systematically reviewed with a total of 448 subjects. Meta-analysis of IIEF-5 scores showed significant improvements between pre and post transplantation. Our findings confirm that renal transplantation improves erectile function. Furthermore, transplantation also increases testosterone level. However, the evidence is limited because of the small number of studies. Further studies are required to investigate the effects of renal transplantation on erectile function.

scholarly journals Robotic Kidney Transplantation in an Athlete With End-stage Renal Disease. A Case Report

2020 ◽  
Vol 6 (3) ◽  
pp. e538
Author(s):  
Mauro Frongia ◽  
Andrea Solinas ◽  
Rossano Cadoni ◽  
Stefano Malloci
Keyword(s):  
Kidney Transplantation ◽  
Case Report ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Aortobifemoral reconstruction and renal transplantation in a patient with abdominal aortic aneurysm and occlusion of iliac arteries: A case report

2017 ◽  
Vol 74 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Aleksandar Tomic ◽  
Novak Milovic ◽  
Ivan Marjanovic ◽  
Ivan Lekovic ◽  
Zoran Bjelanovic ◽  
...  
Keyword(s):  
Abdominal Aortic Aneurysm ◽  
Case Report ◽  
Renal Transplantation ◽  
Aortic Aneurysm ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Iliac Arteries ◽  
Abdominal Aortic ◽  
Stage Renal Disease ◽  
End Stage

Introduction. Aortoiliac occlusive disease and abdominal aortic aneurysm in patients with renal insufficiency on hemodialysis can significantly influence the success of renal transplantation. In the recent past, advanced atherosclerosis was considered as contraindication for renal transplantation. Complicated creation of vascular anastomoses and progression of occlusive or aneurysmal disease were the main reasons. Case report. We presented a 52-year-old man with a 5-year history of end-stage renal disease on haemodialysis. The patient was previously excluded from renal transplantation program because of severe aortoiliac atherosclerosis and abdominal aortic aneurysm. Resection of abdominal aortic aneurysm with occlusion of the iliac arteries and reconstruction with aortobifemoral synthetic grafts was performed and followed by cadaveric renal transplantation. Conclusion. Advanced atherosclerotic disease in aortoiliac segment requires elective vascular surgical reconstruction, as part of preparation for renal transplantation in patients with end-stage renal disease.

scholarly journals CYTOMEGALOVIRUS INFECTION IN IMMUNOSUPPRESSED PATIENTS AFTER KIDNEY TRANSPLANTATION

2016 ◽  
Vol 89 (3) ◽  
pp. 343-346 ◽  
Author(s):  
Simona Luscalov ◽  
Luminita Loga ◽  
Lucia Dican ◽  
Lia Monica Junie
Keyword(s):  
Kidney Transplantation ◽  
Renal Transplantation ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Cmv Infection ◽  
Living Donor Transplantation ◽  
Important Solution ◽  
Immunosuppressed Patients ◽  
Stage Renal Disease ◽  
End Stage

The first kidney transplantation was performed in 1951 and ever since then living donor transplantation became a more and more important solution for patients with end-stage renal disease (ESRD).Renal transplantation is a life-saving procedure. Morbidity and mortality on waiting-lists are strongly correlated with the time of dialysis and end-stage renal disease is one of the most important causes of death; this is the reason why transplantation has to be performed as soon as possible in order to reduce the time of dialysis.Once the transplantation is performed, a number of complications may occur in post-transplant evolution, the most important of which is rejection.The rejection may appear through several mechanisms, but one of the most frequent causes of rejection is cytomegalovirus (CMV) infection. It is very important to have a precocious and fast diagnosis of CMV infection in order to maintain the functionality and survival of the graft. PP65 CMV antigenemia has proven its effectiveness in detecting and monitoring the CMV infection in transplanted patients.In the laboratory of the Clinical Institute of Urology and Renal Transplantation (ICUTR) of Cluj Napoca the CMV infection is evidenced by two methods: PP65antigenemia and IgM antibody identification by chemiluminiscence. 

scholarly journals Pre-emptive Renal Transplantation: Optimum Treatment for End-Stage Renal Disease?

2008 ◽  
Vol 47 (169) ◽  
Author(s):  
B M Shrestha
Keyword(s):  
Kidney Transplantation ◽  
Renal Transplantation ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Clinical Evidence ◽  
Renal Allografts ◽  
The United Kingdom ◽  
Recent Emergence ◽  
Stage Renal Disease ◽  
End Stage

Renal transplantation (RT) prior to having dialysis or pre-emptive renal transplantation (PRT) hasbeen controversial because of the paucity of clinical evidence to clarify the benefi ts and risks of PRT.The recent emergence of evidences from major transplant centres in the United Kingdom and UnitedStates have confi rmed the survival advantages for both renal allografts and RT recipients. Hence anincreasing number of transplant centres are adopting the practice of PRT. This article discusses theadvantages and disadvantages of PRT and highlights the clinical evidences in support of PRT.Key Words: Dialysis, kidney transplantation, pre-emptive renal transplantation

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