Recurrent Focal Segmental Glomeruloscleosis Progressing to Collapsing Glomerulopathy in Renal Graft of an Autopsy study

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S153-S154
Author(s):  
C Thorburn ◽  
K J Jabbar ◽  
W Li ◽  
H Kanaan ◽  
P Zhang
Keyword(s):  
Gene Mutations ◽  
Severe Form ◽  
Kidney Graft ◽  
Autopsy Study ◽  
Donor Kidney ◽  
Ki 67 ◽  
Collapsing Glomerulopathy ◽  
Distal Tubules ◽  
Collapsing Fsgs

Abstract Introduction/Objective Collapsing glomerulopathy (CGN) mainly occurs in patients of African descent because a majority of these patients have APOL-1 gene mutations that results in damage of terminally differentiated podocytes, diffuse fusion of foot processes, and podocyte hyperplasia. Idiopathic FSGS is associated with high rates of recurrent FSGS in renal transplants and can be seen in patients with APOL-1 gene mutations as well, but recurrent FSGS progressing to CGN is not reported. Here we report an autopsy case with renal transplant showing recurrent FSGS progressing to CGN. Methods/Case Report Our patient was a 32 year old African American man who had a native renal biopsy which showed primary FSGS (with no infectious history) 8 years ago. Last year he received a renal transplantation (complex donor kidney from a deceased 25 year old man with pre-mortem serum creatinine (sCr) at 0.7 mg/dl). His initial post- transplant sCr level was as low as 1.17 mg/dl. However, in 4 months his sCr went up and he began to have higher levels of proteinuria. Sequential biopsies indicated that the patient developed a recurrent FSGS that progressed to show features of CGN. In his autopsy kidney graft, approximately 50% of glomeruli show collapsed loops with various degrees of hyperplasic podocytes, confirmed by positive CD133 staining (a progenitor cell marker). In addition, the hyperplastic podocytes lost WT-1 expression and were positive for Ki-67 staining. Distal tubules showed obvious cystic dilation. Overall findings were consistent with a severe form of CGN. Results (if a Case Study enter NA) NA Conclusion The clinical presentation of recurrent FSGS progressing to collapsing FSGS in our patient suggests that CGN and idiopathic FSGS may share a common pathophysiologic mechanism of disease.

scholarly journals Outcomes in Living Donor Kidney Transplantation: The Role of Donor’s Kidney Function

2021 ◽  
pp. 1-11
Author(s):  
Massimo Torreggiani ◽  
Ciro Esposito ◽  
Elena Martinelli ◽  
Thomas Jouve ◽  
Antoine Chatrenet ◽  
...  
Keyword(s):  
Kidney Transplant ◽  
Kidney Function ◽  
Living Donor ◽  
Graft Function ◽  
Kidney Graft ◽  
Donor Kidney ◽  
Transplant Center ◽  
Function Correlation ◽  
End Stage ◽  
Living Donor Kidney

<b><i>Introduction:</i></b> Living donor kidney transplant (LDKT) is one of the best therapeutic options for end-stage kidney disease (ESKD). Guidelines identify different estimated glomerular filtration rate (eGFR) thresholds to determine the eligibility of donors. The aim of our study was to evaluate whether pretransplant donor eGFR was associated with kidney function in the recipient. <b><i>Methods:</i></b> We retrospectively studied LDKT recipients who received a kidney graft between September 1, 2005, and June 30, 2016 in the same transplant center in France and that had eGFR data available at 3, 12, 24, and 36 months posttransplant. <b><i>Results:</i></b> We studied 90 donor-recipient pairs. The average age at time of transplant was 51.47 ± 10.95 for donors and 43.04 ± 13.52 years for recipients. Donors’ average eGFR was 91.99 ± 15.37 mL/min/1.73 m<sup>2</sup>. Donor’s age and eGFR were significantly correlated (<i>p</i> &#x3c; 0.0001, <i>r</i><sup>2</sup> 0.023). Donor’s age and eGFR significantly correlated with recipient’s eGFR at 3, 12, and 24 months posttransplant (age: <i>p</i> &#x3c; 0.001 at all intervals; eGFR <i>p</i> = 0.001, 0.003, and 0.016, respectively); at 36 months, only donor’s age significantly correlated with recipient’s eGFR. BMI, gender match, and year of kidney transplant did not correlate with graft function. In the multivariable analyses, donor’s eGFR and donor’s age were found to be associated with graft function; correlation with eGFR was lost at 36 months; and donor’s age retained a strong correlation with graft function at all intervals (<i>p</i> &#x3c; 0.001). <b><i>Conclusions:</i></b> Donor’s eGFR and age are strong predictors of recipient’s kidney function at 3 years. We suggest that donor’s eGFR should be clinically balanced with other determinants of kidney function and in particular with age.

scholarly journals A Case Study on Management of Rett Syndrome by Wholistic approach

2020 ◽  
Vol 11 (2) ◽  
pp. 351-357
Author(s):  
Renu Rathi ◽  
Bharat Rathi ◽  
Rakesh Khatana ◽  
Suraj Sankh
Keyword(s):  
Case Report ◽  
Rett Syndrome ◽  
Motor Development ◽  
Autism Spectrum ◽  
Severe Form ◽  
Fine Motor ◽  
Gross Motor ◽  
Gross Motor Development

Background: Rett syndrome-RS comes under Autism spectrum disorder-ASD which is a neurodevelopmental syndrome. It is diagnosed by the main differentiating features of lack of interpersonal and communication skills, poor eye contact, delayed speech with pervasive abnormal body movements. Aim and Objectives: This case report is aimed at dissemination of comprehensive role of Ayurveda in management of ASD, Rett syndrome. Material and Methods: RS is the severe form of ASD. This case study of 2.3 year’s girl presented with RS and global delay, being treated with wholistic approach. It comprises Ayurveda chikitsa and other therapies like Yoga, hydrotherapy, occupational, music, physiotherapy and many more. Observation and Result: Patient has shown promising results in all developmental milestones such as gross motor, fine motor and personal social in 6 months duration except language. Different varieties of massage therapy, diet and Basti, Nasya (Panchkarma) procedures, Omkar mantra chanting, passive Yogasana were done. Conclusion: In this case report, mainly Ayurveda interventions were implemented with wholistic approach as an adjuvant, received good result in gross motor development which is very difficult in RS, hence it is a unique case. It also opened the door of wholistic approach with the hope to deliver the good result in similar disorders.

scholarly journals Urinary Biomarkers α-GST and π-GST for Evaluation and Monitoring in Living and Deceased Donor Kidney Grafts

2019 ◽  
Vol 8 (11) ◽  
pp. 1899 ◽  
Author(s):  
Shadi Katou ◽  
Brigitta Globke ◽  
M. Haluk Morgul ◽  
Thomas Vogel ◽  
Benjamin Struecker ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Graft Function ◽  
Rejection Sensitivity ◽  
Deceased Donor ◽  
Urine Samples ◽  
Kidney Graft ◽  
Donor Kidney ◽  
Kidney Recipients ◽  
Deceased Donor Kidney ◽  
Brain Dead

The aim of this study was to analyze the value of urine α- and π-GST in monitoring and predicting kidney graft function following transplantation. In addition, urine samples from corresponding organ donors was analyzed and compared with graft function after organ donation from brain-dead and living donors. Urine samples from brain-dead (n = 30) and living related (n = 50) donors and their corresponding recipients were analyzed before and after kidney transplantation. Urine α- and π-GST values were measured. Kidney recipients were grouped into patients with acute graft rejection (AGR), calcineurin inhibitor toxicity (CNI), and delayed graft function (DGF), and compared to those with unimpaired graft function. Urinary π-GST revealed significant differences in deceased kidney donor recipients with episodes of AGR or DGF at day one after transplantation (p = 0.0023 and p = 0.036, respectively). High π-GST values at postoperative day 1 (cutoff: >21.4 ng/mg urine creatinine (uCrea) or >18.3 ng/mg uCrea for AGR or DGF, respectively) distinguished between rejection and no rejection (sensitivity, 100%; specificity, 66.6%) as well as between DGF and normal-functioning grafts (sensitivity, 100%; specificity, 62.6%). In living donor recipients, urine levels of α- and π-GST were about 10 times lower than in deceased donor recipients. In deceased donors with impaired graft function in corresponding recipients, urinary α- and π-GST were elevated. α-GST values >33.97 ng/mg uCrea were indicative of AGR with a sensitivity and specificity of 77.7% and 100%, respectively. In deceased donor kidney transplantation, evaluation of urinary α- and π-GST seems to predict different events that deteriorate graft function. To elucidate the potential advantages of such biomarkers, further analysis is warranted.

Pancreas after living donor kidney transplants in diabetic patients: impact on long-term kidney graft function

2009 ◽  
Vol 23 (4) ◽  
pp. 437-446 ◽  
Author(s):  
Francois Kleinclauss ◽  
Martin Fauda ◽  
David E.R. Sutherland ◽  
Colette Kleinclauss ◽  
Rainer W. Gruessner ◽  
...  
Keyword(s):  
Living Donor ◽  
Graft Function ◽  
Diabetic Patients ◽  
Kidney Graft ◽  
Kidney Transplants ◽  
Donor Kidney ◽  
Living Donor Kidney

scholarly journals Amelogenesis imperfecta: A case series

2021 ◽  
Vol 7 (3) ◽  
pp. 145-148
Author(s):  
Jijin M J ◽  
Thabsheera P P ◽  
Mohamed Labeeb K P ◽  
Anjana R
Keyword(s):  
Dental Treatment ◽  
Tooth Development ◽  
Genetic Disorders ◽  
Case Series ◽  
Gene Mutations ◽  
Amelogenesis Imperfecta ◽  
Clinical Case Study ◽  
Different Types

Amelogenesis imperfecta (AI) refers to a group of rare genetic disorders that involve tooth development and that are passed down through families as a dominant trait. This condition is characterized by abnormal enamel formation caused by gene mutations that alter the quality and/or quantity of enamel. This dental problem can impact both primary and permanent dentition, varies among affected individuals, and results in esthetic and functional problems. The treatment planning for patients with AI is related to many factors, including the age of the patient, the type and severity of the disorder, intraoral conditions, and the socioeconomic status of the patient. It is crucial to plan a proper remedy, which requires collaboration among dental specialties to execute comprehensive dental treatment in order to provide a long-term solution with adequate esthetics. This clinical case study looks at three different types of amelogenesis imperfecta patients.

scholarly journals Case Report: Temozolomide Treatment of Refractory Prolactinoma Resistant to Dopamine Agonists

2021 ◽  
Vol 12 ◽  
Author(s):  
Hao Tang ◽  
Yijun Cheng ◽  
Jinyan Huang ◽  
Jianfeng Li ◽  
Benyan Zhang ◽  
...  
Keyword(s):  
Complete Remission ◽  
Genome Sequencing ◽  
Copy Number ◽  
Dopamine Agonists ◽  
Tumor Volume ◽  
Gene Mutations ◽  
High Sensitivity ◽  
High Dose ◽  
Ki 67 ◽  
Continuous Increase

Therapeutic agents for refractory prolactinomas that are resistant to dopamine agonists (DAs) are troublesome, and surgery often only removes a large part of the tumor without complete remission. Among the various second-line treatment regimens, the treatment effect of the alkylating agent temozolomide (TMZ) is only effective for approximately half of patients; however, complete remission is rare. Here we report a patient with prolactinoma who was resistant to high-dose cabergoline (CAB) treatment, demonstrating a continuous increase in both the tumor volume and the prolactin (PRL) level. Given that this case is a refractory prolactinoma, the patient underwent two transsphenoidal approach (TSA) surgeries. The pathological analysis indicated that the Ki-67 index increased significantly from 3% to 30%, and the expression levels of DRD2 and MGMT were low. Finally, TMZ treatment was recommended. A total of six cycles of TMZ standard chemotherapy shrank the tumor volume and the tumor disappeared completely. During the 6-month follow-up period, the tumor did not relapse again, and the PRL level was also normal. RNA sequencing and DNA whole genome sequencing were performed on this prolactinoma specimen, revealing 16 possible gene mutations, including a missense mutation of the PABPC1 gene. Additionally, the copy number variation analysis results showed that several chromosomes had copy number gains compared to the matched peripheral blood sample. In this case, low expression of DRD2 and high proliferation led to resistance to CAB, whereas low MGMT expression contributed to sensitivity to TMZ treatment. The results of genome sequencing still need further investigation at the molecular level to explain the tumor aggressiveness and high sensitivity to TMZ.

scholarly journals The surge in fatal diabetic ketoacidosis in the years of the COVID-19 pandemic: a forensic autopsy study

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S21-S22
Author(s):  
R L Geller ◽  
J Aungst ◽  
C Lee
Keyword(s):  
Diabetic Ketoacidosis ◽  
Cause Of Death ◽  
Undiagnosed Diabetes ◽  
Medical Examiner ◽  
Age At Death ◽  
Autopsy Study ◽  
Time Period ◽  
Previous Diagnosis ◽  
Undiagnosed Diabetes Mellitus

Abstract Introduction/Objective Although many deaths resulting from diabetic ketoacidosis (DKA) fall outside the legal jurisdiction of the medical examiner, a forensic pathologist may identify this cause of death through ancillary testing multiple times per year. We recognized a sharp increase in deaths due to DKA at a busy metropolitan medical examiner’s office in 2020 and 2021, coinciding with the COVID-19 pandemic. We hypothesize that in the majority of these cases, fatal DKA was the presenting symptom of previously undiagnosed diabetes mellitus (DM). Methods/Case Report We performed a retrospective autopsy review of all cases with a cause of death listed as “diabetic ketoacidosis” from January 1, 2018 through June 18, 2021. We compared the number of DKA deaths to all reported deaths from the same time period. Results (if a Case Study enter NA) We identified a total 34 cases of fatal DKA. In 2018, 5 cases of DKA were identified and all decedents had a known diagnosis of DM; the average age at death was 50.6 years (range: 40- 60 years) and 2 decedents were male (40%). In 2019, 5 cases of DKA were identified and 4 decedents had a known diagnosis of DM (80%); the average age at death was 51.4 years (range: 37- 61 years), and all decedents were male (100%). In 2021, 18 cases of DKA were identified and 9 decedents had a previous diagnosis of DM (50%); the average age at death was 43.5 years (range: 22- 64 years), 13 decedents were male (72%), and 1 decedent was COVID-19 positive (5.5%). In the first 6 months of 2021, 6 cases of DKA were identified and none of these decedents had a previous diagnosis of DM (0%); the average at death was 51.8 years (range: 35- 73 years), 4 decedents were male (66%), and 1 decedent was COVID-19 positive (16.6%). Reported deaths per year to our office are as follows: 2018 = 2585 deaths, 2019 = 2658 deaths, 2020 = 3091 deaths, and 2021 to date = 1482 deaths. Conclusion Coinciding with the COVID-19 pandemic, our office experienced a 16.2% increase in all reported deaths from 2019 to 2020, and a 260% increase in fatal DKA. In 2018 and 2019, 9 of the 10 decedents who died from DKA had a known diagnosis of DM (90%). However, in 2020 and the first half of 2021, DKA was the presenting symptom of previously undiagnosed DM in 15 of 24 cases of fatal DKA (62.5%). Further investigation must be done to examine the factors driving the recent surge in fatal DKA.

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