Identification of novel missense mutation in a patient with an asymptomatic para-aortic paraganglioma

A 31-year-old Caucasian woman underwent a standard workup as a potential kidney transplant donor. Kidney donor protocol CT showed a left para-aortic hypervascular mass suspicious for a paraganglioma. Biochemical workup revealed elevated urinary catecholamines, supporting this suspicion. The patient underwent surgical resection with histopathological evaluation that confirmed the diagnosis. Endocrine evaluation 2 years later revealed a family history of a cousin with a history of pheochromocytoma as a teenager. A genetic panel identified a missense mutation in succinate dehydrogenase C (c.202T>C; p.Ser68Pro), which was described as a variant of unknown significance. In silico analysis suggested that it may be a deleterious mutation. We concluded that this mutation may be pathogenic, considering these supporting pieces of evidence and her early-onset paraganglioma. This report highlights the importance of genetic screening in patients with paragangliomas/pheochromocytomas, since many cases are familial. Additionally, it underscores the importance of evaluating and documenting cases of variants of unknown significance.

Reduction in Glomerular Filtration Rate Following Live Kidney Transplant Donor

Aim: Renal replacement therapy is best possible treatment for end stage renal failure, but current research suggestive of augmented long-term risk in renal function for the donor. Methods:At this time, we evaluate the subjects for the risk of decreased (eGFR) estimated glomerular filtration rate within old 50 giver, who undergo pre-donation assessment and live benefactor nephrectomyamong 2007 and 2015by multiple centers of Pakistan. Results:The mean pursuepoint in time was 8.5 years (0.9–28.2). Inco relational analysis, subject age and status of hypertension (arterial) by thereference line were considerablylinked witha elevatedhazard of unfavorable renal effect, in particular, eGFR <60mL/min/1.73m2 (age/year: hazard ratio (HR) 1.03, 95% confidence interval (CI) 1.04–1.08, (HTN): HR 1.09, 95% CI 1.21–4.0), eGFR <60 mL/min/1.73 m2 and a turn down of _39% from the initial measured line (age: HR 1.07, 95% CI 1.03–1.13,HTN: HR 4.22, 95% CI 1.71–10.35), and, eGFR <45mL/min/1.73m2. Age and HTN HR 2.13, 95% CI1.04–1.21, HR 4.05, 95% CI 1.47–18.15 respectively, Adding together, eGFR levels at occasion of contribution was linked with a lesserhazard of eGFR <60 mL/min and eGFR <40 mL/min. The only significantpredictor for adverse renal outcomes was Age. Conclusion: Arterial hypertension, lower level of eGFR, and age at the time of donation are powerful prognosticating factor for undesirable kidney adverse effects in live renaldonor. Keywords: eGFR (per mL/min/1.73 m2) Estimated glomerular filtration rate, arterial hypertension HTN; ESRD

Evaluation of Living Related Kidney Transplant Donor: Study of 50 Donors

not available DOI: http://dx.doi.org/10.3329/pulse.v5i2.20260 Pulse Vol.5 July 2011 p.16-21