ANSWER: D ADPKD is genetically heterogeneous with two major genes, PKD1 and PKD2 (~90% families), and a rare third locus, GANAB lately discovered. Less than 10% of ADPKD families are negative for these genes. More recently, DNAJB11 has been identified in those patients from ADPKD-negative pedigrees. For the blog: ADPKD is the most common inherited kidney disorder. Two genes PKD1 and PKD2, coding for membrane proteins involved in the primary cilium, account for more than 90% of typical cases of ADPKD. A third gene, GANAB coding for the α-subunit of the endoplasmic reticulum-resident enzyme glucosidase II, has been associated with...
Archive: October 2019
- Published: October 25, 2019
- By: Joel Murphy, MD
[video width="1920" height="1080" mp4="https://www.arkanalabs.com/wp-content/uploads/Fellowing-Joel-Ep-7.mp4"][/video] This week we caught Dr. Murphy behind the scope with Dr. Kuperman as he was asked to explain his diagnosis of a tricky case.
The above painting shows a glomerulus containing capillary loop fibrin thrombi, an arteriole with onion-skinning, and acute tubular injury, findings that can be seen in thrombotic microangiopathy. Morphologic findings of thrombotic microangiopathy that can be seen on a renal biopsy include arteriolar or capillary loop fibrin or platelet thrombi, red blood cell fragmentation within glomerular capillary loops or within arteries, mesangiolysis, endothelial cell swelling, glomerular basement membrane duplication, mucoid intimal edema of arteries, and a myointimal proliferation surrounding arterioles (onion-skinning like reaction). Thrombotic microangiopathy (TMA) has a wide clinical differential diagnosis, which can have substantial morphologic overlap on a kidney...
The patient is a 45-year-old IV drug user who presents with fevers, chills, hematuria, and fatigue. On laboratory testing, he was found to have a creatinine of 4.8. Complement levels are depressed and blood cultures are positive. A transesophageal echocardiogram confirmed the presence of endocarditis. A kidney biopsy was obtained due to hematuria. Image 1 and Image 3 shows circumferential cellular crescents with fibrinoid necrosis (many intracapillary neutrophils are seen in image 3). Figure 2 shows severe interstitial fibrosis. Images 4 and 5 show immunofluorescence staining with IgM and C3, respectively. This is a case of endocarditis-associated glomerulonephritis with diffuse...
Kidney transplant donors and autosomal dominant polycystic kidney disease.
- Published: October 16, 2019
- By: Arkana Author
Last week Gail pulled her dummy from the closet (he goes by River around here) to set him up as someone taking a nap in the common space. Since then, River has entertained a visitor... Caught up on some reading... And started to plan his Halloween costume! He's really been checking things off of his to-do list this past week.
Meet Kaleigh Miskin. Kaleigh is a cytologist and histologist who joined our lab in 2015. She received her cytotech degree from University of Arkansas for Medical Sciences in 2015 and became a licensed histotechnologist in 2017. Her knowledge, ability, and attitude led to her promotion to Assistant Lead in the Light Microscopy section of our laboratory in 2018. Co-workers describe Kaleigh as kind, positive, organized and patient. She leads by example and is quick to jump in to help without complaint. Likewise, Kaleigh says her favorite part about working at Arkana is the environment. "There are nice people, we get...
- Published: October 11, 2019
- By: Joel Murphy, MD
This week Dr. Murphy learned a lesson in Arkana culture. [video width="1920" height="1080" mp4="https://www.arkanalabs.com/wp-content/uploads/IMG_1387-1.mp4"][/video]
Monday Renal disease related to infective endocarditis was first reported over 100 years ago. However, the initial literature describing nephritis associated with infective endocarditis relied primarily on autopsy-based studies from the pre- and early post-antibiotic era. Reviews from recent decades note the evolution in renal complications of infectious diseases. Demographics have changed from younger to older patients. The frequency of comorbidities including diabetes has increased. Recent decades have seen a change in the infectious agents that cause renal disease, from primarily Streptococcal to a broader array of organisms compared to the past, with predominance of Staphylococci. The historical division into...
- Published: October 4, 2019
- By: Joel Murphy, MD
[video width="1920" height="1080" mp4="https://www.arkanalabs.com/wp-content/uploads/IMG_1387.mp4"][/video] This week we caught Dr. Murphy while learning our EM process.