scholarly journals Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation

2019 ◽  
Vol 15 (6) ◽  
pp. 470-478
Author(s):  
Irina N. Lupan ◽  
Alexander Yu. Pischalnikov ◽  
Hadizha M. Emirova ◽  
Ekaterina S. Stolyarevich ◽  
Alexander M. Volyansky ◽  
...  
Keyword(s):  
Renal Failure ◽  
Factor H ◽  
Plasma Therapy ◽  
Haemolytic Uremic Syndrome ◽  
Uremic Syndrome ◽  
Factor H Mutation ◽  
Haematological Remission ◽  
Probability Of Death ◽  
End Stage

Atypical haemolytic uremic syndrome (aHUS) is an extremely rare pathology with the development of complement-mediated thrombotic microangiopathy (TMA). Before eculizumab, a humanized IgG monoclonal antibody to the complement component C5, the prognosis of total and renal survival with aHUS was unfavourable due to the high probability of death and the development of end-stage chronic renal failure in surviving patients. This article presents a clinical observation of a patient with aHUS who had an identified heterozygous factor H (CFH) mutation — c.3653G>A(p.Cys1218Tyr), and two heterozygous variants of polymorphism in the same gene — c.2016A>G; c.2808G>T. Despite the achievement of haematological remission of TMA against the background of plasma therapy, the child developed dialysis-dependent renal failure. Treatment with eculizumab in a patient with chronic kidney damage provided a significant improvement in their function, maintaining a stable remission and improving the quality of life of the patient with aHUS.Kh. М. Emirova, Е. S. Stolyarevich take part in educational events for doctors as lecturers with the support of Alexion Pharma. The other contributors confirmed the absence of a reportable conflict of interest.

scholarly journals De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Arnaud Devresse ◽  
Martine de Meyer ◽  
Selda Aydin ◽  
Karin Dahan ◽  
Nada Kanaan
Keyword(s):  
Kidney Transplantation ◽  
De Novo ◽  
Alternative Pathway ◽  
Factor H ◽  
Complement Factor ◽  
Haemolytic Uremic Syndrome ◽  
Hinman Syndrome ◽  
Uremic Syndrome ◽  
Stage Renal Disease ◽  
End Stage

De novo thrombotic microangiopathy (TMA) can occur after kidney transplantation. An abnormality of the alternative pathway of complement must be suspected and searched for, even in presence of a secondary cause. We report the case of a 23-year-old female patient who was transplanted with a kidney from her mother for end-stage renal disease secondary to Hinman syndrome. Early after transplantation, she presented with 2 episodes of severe pyelonephritis, associated with acute kidney dysfunction and biological and histological features of TMA. Investigations of the alternative pathway of the complement system revealed atypical haemolytic uremic syndrome secondary to complement factor I mutation, associated with mutations in CD46 and complement factor H related protein genes. Plasma exchanges followed by eculizumab injections allowed improvement of kidney function without, however, normalization of creatinine.

Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab

Nephron ◽  
2017 ◽  
Vol 138 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Hironori Nakamura ◽  
Mariko Anayama ◽  
Mutsuki Makino ◽  
Yasushi Makino ◽  
Katsuhiko Tamura ◽  
...  
Keyword(s):  
Case Report ◽  
Hemolytic Uremic Syndrome ◽  
Iga Nephropathy ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
Uremic Syndrome ◽  
Factor H Mutation

scholarly journals Atypical haemolytic uremic syndrome secondary to acute pancreatitis: a unique presentation

2019 ◽  
Vol 12 (9) ◽  
pp. e230822 ◽  
Author(s):  
Jacob Barish ◽  
Pallavi Kopparthy ◽  
Bradley Fletcher
Keyword(s):  
Renal Failure ◽  
Acute Pancreatitis ◽  
Early Recognition ◽  
Standard Of Care ◽  
Timely Manner ◽  
Haemolytic Uremic Syndrome ◽  
Complement Dysregulation ◽  
Atypical Haemolytic Uraemic Syndrome ◽  
Uremic Syndrome ◽  
To Receive

Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient’s initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. On early recognition of aHUS, this patient was able to receive the proper standard of care with eculizumab and had a full recovery while preventing renal failure. When patients present with thrombocytopaenia and renal failure in acute pancreatitis, we want to ensure physicians keep aHUS on the differential.

scholarly journals Surgical complications of peritoneal dialysis in children with acute kidney failure

2020 ◽  
Vol 11 (3) ◽  
pp. 57-63
Author(s):  
Dmitrii A. Dobroserdov ◽  
Mikhail V. Shchebenkov ◽  
Alexey L. Shavkin
Keyword(s):  
Renal Failure ◽  
Acute Renal Failure ◽  
Peritoneal Dialysis ◽  
North West ◽  
The North ◽  
Specialized Center ◽  
Uremic Syndrome ◽  
Specialized Department ◽  
Dialysis Complications

The dialysis department of the Childrens City Multidisciplinary Clinical Specialized Center for High Medical Technologies has been operating since 1977 and is the only specialized department in the North-West Region of the Russian Federation that provides assistance to children with both acute and chronic renal failure. Peritoneal dialysis is the treatment of choice for children with acute renal failure, the most common cause of which is hemolytic-uremic syndrome. Despite widely used measures to improve the results of peritoneal dialysis, complications are extremely common. The article analyzes the complications of peritoneal dialysis in children with acute renal failure who were treated in a hospital from 2008 to 2018. The emphasis in the study is on the analysis of complications of peritoneal dialysis, in the treatment of which the surgeon actively participated or should have taken part in. If the problem of acute renal failure is multidisciplinary in the sense that it requires the participation of nephrologists, resuscitators, infectious disease specialists, then if necessary, renal replacement therapy requires the surgeon to become not only a specialist providing access, but also a full-fledged participant in the treatment process. As follows from the foregoing, the surgeons actions depend not only on the quality of dialysis, but also the timeliness and adequacy of treatment of complications, which ultimately improves or worsens the quality of medical care in general.

scholarly journals Familial Atypical Hemolytic Uremic Syndrome with Positive pS1191L (c.3572C> T) Mutation in CFH A Single-Center Experience

2019 ◽  
Author(s):  
Fadime ERSOY DURSUN ◽  
Gözde YESIL ◽  
Hasan DURSUN ◽  
Gülşah SASAK
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Family History ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Gene Mutations ◽  
Factor H ◽  
The Other ◽  
History Of ◽  
Uremic Syndrome

Abstract Background: Atypical hemolytic uremic syndrome is a condition characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury, which can exhibit a poor prognosis. Gene mutations play a key role in this disease, which may be sporadic or familial. Methods: We studied, 13 people from the same family were investigated retrospectively for gene mutations of familial atypical hemolytic uremic syndrome after a patient presented to our emergency clinic with atypical hemolytic uremic syndrome and reported a family history of chronic renal failure. Results: The pS1191L mutation in the complement factor H gene was heterozygous in 6 people from the family of the patient with atypical hemolytic uremic syndrome. One of these people was our patient with acute renal failure and the other two are followed up by the Nephrology Clinic due to chronic renal failure. The other 3 persons showed no evidence of renal failure. The index case had a history of 6 sibling deaths; two of them died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment was given to our patient. When patient showed no response to this treatment, eculizumab therapy was started. Conclusions: The study demonstrated that a thorough family history should be taken in patients with atypical hemolytic uremic syndrome. These patients may have familial type of the disease and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of eculizumab as prophylaxis in post-transplant therapy is extremely important for prevention of rejection.

scholarly journals Peritoneal Dialysis at Ibn Sina Hospital in Rabat: 10 years’ experience

2020 ◽  
Vol 3 (1) ◽  
pp. 27-35
Author(s):  
Meryem Benbella ◽  
Aziza Guennoun ◽  
Mohamed Belrhiti ◽  
Tarik Bouattar ◽  
Rabia Bayahia ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Renal Failure ◽  
Peritoneal Dialysis ◽  
Retrospective Study ◽  
Infectious Complications ◽  
Dialysis Modality ◽  
Ibn Sina ◽  
End Stage Renal Failure ◽  
End Stage

Introduction:  The choice of dialysis modality has become an important decision that affects not only the country's health policy in the management of chronic end stage renal failure, but also the quality of life of patients and their survival. Peritoneal dialysis is an alternative for the treatment of these patients. The objective of our work is to report the epidemiological, clinical and biological results in the unit of PD, UHC of Rabat and to clarify the obstacles to the development of PD in Morocco.  Material and Methods:  We conducted a descriptive retrospective study in our PD unit from July 2006 to July 2017, including all patients who were in PD by choice or necessity and enrolled in the French Peritoneal Dialysis Registry (RDPLF).  Results: In 10 years, 159 patients were placed in PD, with an average age of 50.44 +/- 17.42 years and a sex ratio of 1.36. The indication for placement of setting in PD was by choice in 34% of the cases, social in 52% and medical in 14% of cases. Mechanical complications were dominated by catheter migrations. Infectious complications were represented by peritonitis, caused by poor of hygiene in 42% of cases. Conclusion: The obstacles to the development of PD are the lack of knowledge of the technique by the patients, as well as the prejudices or myths about the technique.

Renal transplantation and quality of life in Tanzania

2020 ◽  
Vol 31 (1) ◽  
pp. 1-15
Author(s):  
Onesmo A. Kisanga ◽  
Francis F. Furia ◽  
Paschal J. Ruggajo ◽  
Eden E. Maro
Keyword(s):  
Quality Of Life ◽  
Renal Failure ◽  
Kidney Transplantation ◽  
Renal Transplantation ◽  
Renal Transplant Recipients ◽  
End Stage Renal Failure ◽  
Laboratory Test Results ◽  
The Government ◽  
End Stage

Background: Renal replacement therapy (RRT), which includes dialysis and kidney transplantation, is the treatment of choice for patients with end stage renal failure (ESRF). Most sub-Saharan African countries have not developed renal transplantation services and are relying on referring patients to overseas countries. This study was carried out to describe renal transplantation experience in Tanzania.Methods: Forty-four renal transplant recipients were recruited in this study. Standardized questionnaire and Swahili version of standard form – 36 (SF-36) were used to collect socio-demographic information, clinical data, laboratory test results and health related quality of life information.Results: Ages of transplant recipient ranged from 21 to 66 years with mean age of 45.9 ± 10.5 years. The leading causes of end stage renal failure among participants was hypertension 58.8% (25/44) followed by glomerulonephritis 15.9% (7/44). Twentyeight (63.6%) of transplantations were paid by the government. Most of the donors (97.7%) were living out of which 26 (59.1%) were siblings and 11 (25%) were second-degree relatives (cousins and nephews). Most common complication noted following transplantation was diabetes mellitus 9 (20.5%) and 3 (6.8%) had chronic rejection. Mental health was the domain with highest mean score (75.6 ± 14.3) and role physical had the least mean score (44 ± 45.6).Conclusions:  Hypertension was the leading cause of ESRF in this study. Most of the donors were siblings and the costs of transplantation were largely covered by the government. There is a need for concerted effort to establish local kidney transplantation services in Tanzania. Keywords: Renal transplantation, quality of life in transplantation, Tanzania.

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