Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence?

Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. A literature review was carried out to see if these two disorders could be linked. Case presentation: A young male presented for incidentally found renal cysts. Kidney function was well preserved, but the patient had positive family history of ADPKD. During routine follow-up, a history of aortic valve disease was mentioned. This, along with the patient’s tall, lean stature and long extremities raised the concern for MFS. A detailed physical examination and workup by other specialists confirmed a clinical diagnosis of MFS. They had no known family history of MFS. The patient has been followed at Associates in Kidney Care, Des Moines, Iowa, USA, for the past 2 years. Discussion: There are several reports of overlap of ADPKD and connective tissue disorders with an overlap of vascular disorders. ADPKD and MFS are caused by totally different mutations. However, the literature review showed that vascular abnormalities and connective tissue diseases may be more common with ADPKD. Studies have shown that there could be a common signalling pathway for connective tissue disorders when both genes are affected simultaneously. Further research is needed to identify these pathways. More frequent screening of vascular abnormalities might be warranted in those with both phenotypes

Pembrolizumab induced hyponatremia. A case report

Hyponatremia is the most common electrolyte abnormality inpatient. Medications are a common cause of this. Cancer treatment has evolved with immune check point inhibitors replacing conventional chemotherapy agents. Pembrolizumab, which is a program cell death receptor-1 ligand has been shown to cause endocrinopathies. We describe a case of hyponatremia due to pembrolizuma

A Case of Maintenance Prednisone in ANCA Glomerulonephritis

Anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis (AAV) is a rare condition that can cause rapid renal failure. Treatment involves steroids and other immunosuppressive agents. Agents for induction include rituximab, cyclophosphamide, pulse dose steroids and avacopan. Maintenance regimens include tapered doses of steroids, azathioprine and rituximab We present a case of severe AAV that maintained remission with a protracted course of low dose prednisone without maintenance rituximab or azathioprine. A 70-year-old woman was admitted for acute kidney injury (AKI), with a serum creatinine (sCr) of 6.93 mg/dL (baseline sCr of 0.9 mg/dL, nil proteinuria.) Serologic work-up was positive for P-ANCA. She required one session of hemodialysis and solumedrol was started. Biopsy showed rapidly progressive glomerulonephritis with necrotizing granulomas and severe interstitial fibrosis and tubulointerstitial atrophy (IFTA). Rituximab 375mg/m^2 4 doses weekly was the induction. She maintained off dialysis and her creatinine stabilized, improving to 3.13 mg/dL over three months. Patient declined maintenance cytotoxic therapy due to concern for lowered immunity during the COVID-19 pandemic. Whenever prednisone was tapered below 10 mg, creatinine would worsen prompting a prolonged course of steroids(12 months). AAV is a rare condition that can cause rapid renal failure. Treatment includes steroids and immunosuppressive agents, given as induction and maintenance therapies. Glucocorticoids have many side effects, and recent trials evaluate reducing cumulative steroid dose. Our report describes a patient with severe disease that required a longer than usual course of steroids to maintain remission. Her regimen presents some treatment challenges, given the current recommendations to taper steroids off sooner. However, her case is unique, as she declined traditional maintenance immunosuppression , but remained in remission with steroids alone

Renal Replacement Therapy During Liver Transplant Surgery

Liver transplant is the treatment available for eligible patients with end-stage liver cirrhosis. Acute kidney injury and electrolyte abnormalities are associated with liver disease and can be exacerbated by surgery. Intraoperative renal replacement therapy has been tried in some large centres. The authors discuss the physiological changes and complications during liver transplant surgery, and review literature on the safety, feasibility, benefits, and drawbacks of intraoperative renal replacement therapy during liver transplant surgery

Adult Onset Nephrotic Syndrome Post COVID-19 Infection

Nephrology Case Conference: Adult Onset Nephrotic Syndrome Post COVID-19 Infection, Drs. Pulkit Gandhi, Marvin Grieff and Arjun Sekar Objectives: To learn about covid 19 and kidney disease. To learn about emerging genetic risk factors for kidney disease

Enzalutamide induced non-ischemic cardiomyopathy. A case report and review of literature on anti-androgen therapy-related cardiovascular events

Prostate cancer has a very high prevalence among elder men, and this could potentially increase as longevity in many parts of the world is increasing. Early stages of prostate cancer can have surgical options, but the more advanced stages require some form of anti-androgen therapy. There are novel anti-androgen agents that were recently approved. Cardiovascular toxicity has been reported with some of these drugs. This is a novel report of likely cardiovascular toxicity due to Enzalutamide, which typically has a safer cardiovascular profile than Abiraterone.We describe a 72-year-old male with repeated recurrence of prostate cancer with metastasis. The second time it recurred was within 2 years of the 1st recurrence and was treated with Enzalutamide.However, within 2 weeks he developed systolic congestive heart failure that improved with stopping the drug and medical optimization.Literature review shows that Abiraterone has more cardiovascular side effects than Enzalutamide which more commonly causes hypertension. The timeline in our case suggests Enzalutamide causing congestive heart failure which is a novel finding. This finding warrants further research regarding the safety profile of novel anti-androgen therapy. This includes risk stratification for potential cardiovascular adverse events and risk/benefit analysis prior to initiating therapy. Data on cumulative dose accumulation and risks can also be an area of future research

A Case of HER2 Mutated Colorectal Cancer Treated Successfully With Fam-Trastuzumab Deruxtecan

Colorectal cancer is a malignant tumor arising from the inner lining of the colon or rectum and is the third most common cancer and the third leading cause of cancer-related deaths in the United States. Human epidermal growth factor receptor 2 (HER2) gene overexpressed or amplified colorectal cancer has shown treatment responses with HER2-directed therapies. We present a 78-year-old woman with metastatic colorectal cancer with a HER2 L726I mutation identified in tumor sequencing with amplification or overexpression of HER2. She had an excellent response to fam-trastuzumab deruxtecan. Our case is the first and most noteworthy case of a patient with metastatic colorectal cancer and a HER2 L726I mutation who achieved a remarkable clinical response to fam-trastuzumab deruxtecan

An unusual cause of chronic diarrhea in a Middle‐Aged adult: A diagnostic challenge

Key Clinical Message Diarrhea is a common symptom in medical practice that often gets overlooked. This article is intended to increase the awareness of physicians and other providers on a subtle but important cause of chronic diarrhea