scholarly journals De novo X-linked Alport syndrome in a 3-year-old girl

2019 ◽  
Vol 12 (7) ◽  
pp. e230183
Author(s):  
Hiroshi Komatsu ◽  
Takeshi Goda ◽  
Kandai Nozu
Keyword(s):  
Alport Syndrome ◽  
De Novo ◽  
Adult Life ◽  
Electron Microscopic ◽  
The Family ◽  
Early Adult Life ◽  
Stage Renal Disease ◽  
End Stage ◽  
Conclusive Diagnosis ◽  
Inherited Kidney Disease

Alport syndrome (AS) is an inherited kidney disease that may lead to end-stage renal disease in early adult life. It is a clinically and genetically heterogeneous nephropathy. The possibility of a patient with haematuria or proteinuria being diagnosed as having AS cannot be excluded even if the patient is female or if the family history is unknown. We report a 3-year-old girl with a de novo frameshift mutation, c.3906delA p.(Gly1303Aspfs*17), in the COL4A5 gene. The significance of the electron microscopic study on the glomerular basement membrane must be emphasised because it is the first step towards the diagnosis of AS. Genetic analysis provides the only conclusive diagnosis of AS, by determining the mode of inheritance and prognosis.

New therapeutic options for Alport syndrome

2019 ◽  
Vol 34 (8) ◽  
pp. 1272-1279 ◽  
Author(s):  
Roser Torra ◽  
Mónica Furlano
Keyword(s):  
Kidney Disease ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Unmet Need ◽  
New Drugs ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Inherited Kidney Disease

Abstract Alport syndrome (AS) is the most frequent inherited kidney disease after autosomal dominant polycystic kidney disease. It has three different patterns of inheritance—autosomal dominant, autosomal recessive and X-linked—which in part explains the wide spectrum of disease, ranging from isolated microhaematuria to end-stage renal disease early in life. The search for a treatment for AS is being pursued vigorously, not only because of the obvious unmet need but also because AS is a rare disease and any drug approved will have an orphan drug designation with its various benefits. Moreover, AS patients are quite young with very few comorbidities, which facilitates clinical trials. This review identifies the particularities of each pattern of inheritance but focuses mainly on new drugs or therapeutic targets for the disease. Most treatment-related investigations are directed not at the main abnormality in AS, namely collagen IV composition, but rather at the associated inflammation and fibrosis. Thus, AS may serve as a proof of concept for numerous drugs of potential value in many diseases that cause chronic kidney disease.

Managing Caregiver Burden among Families of Patients with End-Stage Renal Disease

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Yemisi Okikiade Oyegbile ◽  
Petra Brysiewicz
Keyword(s):  
Renal Disease ◽  
Family Caregivers ◽  
Caregiver Burden ◽  
End Stage Renal Disease ◽  
Qualitative Data ◽  
Government Support ◽  
Implementation Phase ◽  
The Family ◽  
Stage Renal Disease ◽  
End Stage

Family caregivers of patients with end-stage renal disease (ESRD) play a significant role in providing substantial care for a prolonged period for their sick relatives, often with very limited resources, making it a difficult environment. Government support for family caregivers of patients with ESRD is lacking in Nigeria, increasing their vulnerability to caregiver burden and its consequences. An action research study using a complimentary mixed-method approach was used to develop the intervention model for managing caregiver burden. Quantitative data were collected to measure the extent of caregiver burden using a Zarit Burden Interview questionnaire for 96 family caregivers, while individual in-depth interviews with 15 participants provided the qualitative data. Integrating the quantitative and qualitative data led to the identification of four moderators to manage the caregiver burden in this study. The model for managing caregiver burden was developed from the findings, using stressors and associated moderators of caregiving, and the role played by culture and finance in this context. An implementation checklist was developed, which was used by registered nurses to implement the concepts in the model with the family caregivers during the model implementation phase. Family caregivers of patients with ESRD need to be supported by nurses during the caregiving process. Nurses can increase caregivers’ identity and knowledge of the disease as a way of preventing the family caregivers from being overwhelmed by their caregiving role.

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.

scholarly journals A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children

2021 ◽  
pp. 308-313
Author(s):  
Emmanuel Oduware ◽  
Nosakhare Joyce Iduoriyekemwen ◽  
Michael Ibadin ◽  
Henry Aikhionbare
Keyword(s):  
Gene Mutation ◽  
Alport Syndrome ◽  
Enzyme Inhibitors ◽  
Sensorineural Deafness ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
High Tone ◽  
Converting Enzyme Inhibitors ◽  
Ocular Abnormalities ◽  
Stage Renal Disease ◽  
End Stage

Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the <i>COL4A5</i> gene mutation. Both children had the classical features of Alport syndrome haematuria, proteinuria, progressive sensorineural high-tone hearing loss, and ocular abnormalities. Their renal abnormalities initially regressed on therapy with angiotensin-converting enzyme inhibitors but reoccurred, depicting the need for early diagnosis as the early institution of this therapy before significant glomerulopathy is advocated.

scholarly journals Identifying risk factors for development of nephrolithiasis in end-stage renal disease patients

2019 ◽  
Vol 14 (5) ◽  
Author(s):  
Charles Hesswani ◽  
Sameena Iqbal ◽  
Khashayar Rafat Zand ◽  
Simon Sun ◽  
Bernard Unikowsky ◽  
...  
Keyword(s):  
End Stage Renal Disease ◽  
De Novo ◽  
Stone Formation ◽  
Ionized Calcium ◽  
Lower Serum ◽  
Stone Formers ◽  
Serum Ionized Calcium ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Introduction: We sought to assess the incidence and risk factors for stone development in patients with end-stage renal disease (ESRD) on hemodialysis (HD). Methods: Medical records of patients receiving HD between 2007 and 2017 were retrospectively reviewed. Patients who had been on HD for at least three months and had imaging studies (computed tomography [CT] scans or ultrasound [US]) pre- and post-initiation of HD were included. Exclusion criterion was presence of stones pre-HD. De novo stones were defined as renal stones found on followup imaging. Demographics, laboratory data, comorbidities, and dialysis characteristics were compared between non-stone-formers and stone-formers using propensity score matching. Results: A total of 133 patients met the inclusion criteria. Their median age was 68.5 years, median body mass index 28.7 kg/m2, and median dialysis duration 59.5 months. After HD, 14 (10.5%) patients developed de novo stones and their median dialysis-to-stone duration was 23.5 months. When compared with non-stone-formers, stone-formers had significantly lower incidence of hypertension (48.2% vs. 14.3%; p=0.03), lower serum ionized calcium (1.16 vs. 1.07 mmol/L; p=0.01) and magnesium (0.95 vs. 0.81 mmol/L; p=0.01), and significantly higher serum uric acid (281.5 vs. 319.0 mmol/L; p=0.03). Multivariate analysis demonstrated that lower serum ionized calcium (adjusted odds ratio [OR] 0.00001; 95% confidence interval [CI] 0–0.18) and magnesium (adjusted OR 0.0003; 95% CI 0–0.59) were significantly associated with stone formation. Conclusions: The incidence of de novo nephrolithiasis in ESRD patients on HD was 10.5%. Increased serum uric acid, decreased serum magnesium and ionized calcium, and absence of hypertension were associated with increased stone-formation in ESRD patients on HD.

Social consequences in adult life of end-stage renal disease in childhood

2005 ◽  
Vol 146 (4) ◽  
pp. 512-517 ◽  
Author(s):  
Jaap W. Groothoff ◽  
Martha A. Grootenhuis ◽  
Martin Offringa ◽  
Karin Stronks ◽  
Gerard J. Hutten ◽  
...  
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Adult Life ◽  
Social Consequences ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals De NovoKidney Regeneration with Stem Cells

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Shinya Yokote ◽  
Shuichiro Yamanaka ◽  
Takashi Yokoo
Keyword(s):  
Stem Cells ◽  
Stem Cell ◽  
Tissue Repair ◽  
De Novo ◽  
Kidney Regeneration ◽  
Cell Based Therapy ◽  
Organ Regeneration ◽  
Promising Therapeutic Approach ◽  
Stage Renal Disease ◽  
End Stage

Recent studies have reported on techniques to mobilize and activate endogenous stem-cells in injured kidneys or to introduce exogenous stem cells for tissue repair. Despite many recent advantages in renal regenerative therapy, chronic kidney disease (CKD) remains a major cause of morbidity and mortality and the number of CKD patients has been increasing. When the sophisticated structure of the kidneys is totally disrupted by end stage renal disease (ESRD), traditional stem cell-based therapy is unable to completely regenerate the damaged tissue. This suggests that whole organ regeneration may be a promising therapeutic approach to alleviate patients with uncured CKD. We summarize here the potential of stem-cell-based therapy for injured tissue repair andde novowhole kidney regeneration. In addition, we describe the hurdles that must be overcome and possible applications of this approach in kidney regeneration.

scholarly journals Immunological Characteristics and Management of Kidney Transplantation

2020 ◽  
Vol 95 (1) ◽  
pp. 18-26
Author(s):  
Myung-Gyu Kim
Keyword(s):  
Kidney Transplantation ◽  
De Novo ◽  
Treatment Strategies ◽  
Adaptive Immune System ◽  
Diagnostic Tools ◽  
Term Survival ◽  
Stage Renal Disease ◽  
End Stage ◽  
Transplant Immunology

Kidney transplantation (KT) is the best way to improve the quality of life and survival of patients with end-stage renal disease. However, after KT the adaptive immune system plays important roles in the development of rejection via multiple pathways. Accordingly, the suppression or modulation of these pathways is key to allograft survival. Advances in our understanding of the immunology related to KT with the development of immunosuppressants have reduced the rate of acute rejection and improved short-term transplant outcomes. Nonetheless, <i>de novo</i> donor-specific antibodies and subsequent chronic rejection continue to be responsible for the poor long-term survival of transplanted patients. In addition, the morbidity and mortality rates in patients returning to dialysis after graft failure are high. Better long-term outcomes following KT require innovative treatment strategies that include a focus on de novo antibodies. Here, we review basic transplant immunology as well as the diagnostic tools and medications that contribute to successful KT. We also provide an update on newly developed immunosuppressants.

Proliferative glomerulonephritis with monoclonal immunoglobulin deposits: a nephrologist perspective

2019 ◽  
Author(s):  
Frank Bridoux ◽  
Vincent Javaugue ◽  
Samih H Nasr ◽  
Nelson Leung
Keyword(s):  
Cell Clone ◽  
Early Recurrence ◽  
Proliferative Glomerulonephritis ◽  
Monoclonal Immunoglobulin ◽  
Electron Microscopic ◽  
Nephritic Syndrome ◽  
Microscopic Studies ◽  
Immunoglobulin Deposits ◽  
Stage Renal Disease ◽  
End Stage

AbstractProliferative glomerulonephritis (GN) with monoclonal immunoglobulin deposits (PGNMIDs) is a recently described entity among the spectrum of monoclonal gammopathy of renal significance (MGRS). The disease is renal limited and manifests with chronic glomerular disease, altered renal function and albuminuria, sometimes in the nephrotic range. Acute nephritic syndrome is rare. PGNMID occurs mostly in the sixth decade, but it may affect young adults. Histologically, PGNMID is characterized predominantly by membranoproliferative GN and less frequently by diffuse endocapillary GN, mesangioproliferative GN or atypical membranous GN. Immunofluorescence and electron microscopic studies are the cornerstone of diagnosis, showing granular deposits involving glomeruli only, and composed of monotypic immunoglobulin G (IgG), with a single heavy chain subclass (most commonly IgG3) and light chain (LC) restriction (usually κ), admixed with complement deposits. PGNMID variants with monotypic LC-only, IgA or IgM deposits are uncommon. Ultrastructurally, deposits are amorphous with predominant subendothelial and mesangial distribution. PGNMID should be distinguished from type 1 cryoglobulinemic GN and immunotactoid GN, which share some common pathological features. Contrary to other MGRS lesions, the rate of detection of the nephrotoxic monoclonal Ig in the serum or urine, and of an abnormal bone marrow B-cell clone, is only ∼30%. Renal prognosis is poor, with progression to end-stage renal disease in 25% of patients within 30 months and frequent early recurrence on the renal allograft. The pathophysiology of PGNMID is unclear and its treatment remains challenging. However, recent studies indicate that clone-targeted chemotherapy may significantly improve renal outcomes, opening future perspectives for the management of this rare disease.

Sign in / Sign up

Export Citation Format

Share Document