Grandfather's family uses Facebook to find him a kidney
Dan Desmarais, 60, from Sandwich, Massachusetts, suffers from Alport Syndrome, a genetic condition that causes loss of kidney function, and is in the late stages of renal failure. (Source: the Mail online | Health)
Source: the Mail online | Health - February 2, 2018 Category: Consumer Health News Source Type: news
Genetic Testing Using a SRNS Gene Panel Genetic Testing Using a SRNS Gene Panel
The authors developed a targeted next-generation sequencing gene panel assay for diagnostic testing in steroid-resistant nephrotic syndrome or suspected Alport syndrome.Journal of Medical Genetics (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - December 15, 2017 Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news
What is the Genetic Inheritance of Alport Syndrome?
Discussion Alport Syndrome is a genetic disease classically associated with progressive renal disease often leading to end stage renal disease, variable sensory neuronal deafness and ocular findings (perimacular retinopathy). A. Cecil Alport built on the work of others evaluating families with nephritis and/or hematuria. However he very clearly describes the third generation of a family with an X-linked dominant pattern and also emphasizes the syndrome’s associated deafness. Alport writes: “It will be seen from this that nearly all the children of three generations of one family suffer from hematuria or nep...
Source: PediatricEducation.org - August 28, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Regulus Announces Pipeline Updates and Advancements
Phase II RG-012 HERA and Renal Biopsy studies for Alport syndrome move forward Discontinuing clinical development of RG-101 Pre-clinical pipeline progresses LA JOLLA, Calif., June 12, 2017 -- (Healthcare Sales & Marketing Network) -- Regulus Ther... Biopharmaceuticals Regulus Therapeutics, microRNAs (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - June 12, 2017 Category: Pharmaceuticals Source Type: news
Reata initiates Phase II/III trial of bard to treat Alport Syndrome-caused CDK
US-based clinical-stage biopharmaceutical company Reata Pharmaceuticals has initiated patient screening in a Phase II/III trial of bardoxolone methyl (bard) for the treatment of patients with chronic kidney disease (CKD) caused by Alport syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - February 27, 2017 Category: Pharmaceuticals Source Type: news
Guy Reveals To His Buddy He's A Kidney Match. Cue Happy Tears
This is an amazingly heartfelt and hilarious moment. Danny Kolzow, a 23-year-old nurse in Texas who has Alport Syndrome, experienced loss of kidney function and needed a transplant. So when his friend Graham McMillan found out he was a match, the soon-to-be-donor decided to to break the big news in the most perfect way. “I heard urine need of a kidney, want mine?” McMillan, 24, showed up to Baylor All Saints Medical Center in Fort Worth, Texas with a sign that read “I heard urine need of a kidney, want mine?” and shocked the grateful Kolzow. The emotional reveal was caught on ...
Source: Healthy Living - The Huffington Post - July 28, 2016 Category: Consumer Health News Source Type: news
What It Means When You See Blood In Your Urine
There are few moments more frightening than seeing blood in your urine. Happily, the cause is often not serious. The condition is more formally known as hematuria, and blood in the urine is usually the only symptom. Note that it does not take much blood to color urine pink or red, and the bleeding is usually not painful. Certain foods - notably rhubarb and beets - can also turn your urine a reddish color. In all instances of detecting blood in your urine, see a doctor. It is symptomatic of a number of ailments, including: • An enlarged prostate. As this gland begins to grow - commonly with the onset of middle age i...
Source: Healthy Living - The Huffington Post - July 27, 2016 Category: Consumer Health News Source Type: news
Kidney donation runs in the family
Who’s who? Hover over the icons to find out. In addition to being relatives, Susie Percy, her brother Paul Bears, Jr., her father Paul Bears, Sr. and his brother-in-law Bill Cashell all have one thing in common — they each have one kidney. “Kidney donation is a family affair,” says Susie. Thirty-four years ago, Bill Cashell gave a kidney to his son Sean, who was born with a rare genetic condition called Alport syndrome. Eleven years later, when Sean needed a new kidney, his Uncle Paul, Sr. stepped forward. And nine years after that, when Sean was experiencing rejection, Paul Jr. offered to dona...
Source: Thrive, Children's Hospital Boston - April 28, 2016 Category: Pediatrics Authors: Emily Williams Tags: Our Patients’ Stories Heung Bae Kim kidney kidney donation kidney transplant Kidney Transplant Program living donor organ donation Pediatric Transplant Center (PTC) Source Type: news
Transplanting Sibling Love
https://www.youtube.com/watch?v=hFO6COuAhWg For his entire life, radio host James Rabe has known that one day he’d need a new kidney. A disease called Alport Syndrome slowly caused his kidneys to fail. As his condition advanced, the search for a new organ began. His big sister stepped up and gave part of herself so her little brother [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - April 14, 2015 Category: Databases & Libraries Source Type: news
What Causes Proteinuria?
Discussion Proteinuria occurs relatively often in pediatric practice with 5-15% of school children having transient proteinuria, the most common cause. However, proteinuria can be a sign of kidney disease. Therefore, it is important to evaluate the proteinuria in light of the clinical situation. A good history and physical examination along with a full urinalysis and/or BUN and creatinine, or urine protein/creatinine ratio may be all that is necessary. Another patient with edema, hypertension or hematuria needs a fuller evaluation and treatment. Proteinuria is usually categorized into three groups to assist with evaluation...
Source: PediatricEducation.org - August 18, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news