Clinical approach to a child with blood in urine, Nephritic syndrome, IgA nephropathy, Renal tubular acidosis, cystinosis, Fanconi syndrome, Lowe syndrome.
Thanks very much) it's very userful things) I'm postgraduate first year internist, and i glad to find your chanel) It's very knowlegeble) Thanks again))))
Very nicely explained Dr. Have a request, please request to post more clinical scenarios. Enjoyed this presentation and understood Renal tubular acidosis well. Thank you Dr
This is a general definition in RTA. In Type II. The distal tubules are intact and producing enough hydrogen to keep the urine acidic. In the Proximal tubules, the urine was not acidic. Because of too much HCO3.
Just a comment about (nail-patella) syndrome: patella ossification start at age of 3years, before that it is cartilaginous. I guess knowing this help not to falsely diagnose absent patella in very youngs.
You are absolutely right: BMP test; commonly used in US and means basic metabolic panel. includes Na, K, CO2, glucose, BUN, Creat. and Ca. Generally, the serum bicarbonate comprises about 95% of the total CO2 content; thus we can use this measurement as an excellent estimator of serum bicarbonate. The total CO2 content normally equals 23 to 30 mEq/L of serum. Means= Measuring serum CO2 as in this cases =17 reflects the total HCO3 which is 17. Thank you for pointing out this important issue.
+PEDIATRIC BOARD A LAST MINUTE REVIEW thank u sir for clarifying this point ..here in Egypt we usually measure paCO2 in Arterial sample...first time I know about measure co2 in venous sample as indicator of HCO3 thanx again
Yes I know ! in Egypt I have to order everything separate e.g. Na, K, glucose etc, I wish one day to see the lab corporations implementing BMP and CMP panels, and HCO3 or CO2 not to be through blood gas only. Its critical to be all together in many cases in order to understand the case.
VERY NICE AND SIMLIFIED , THANK YOU FOR YOUR EFFORT BUT I THINK ALPORT IS XL DOMINANT NOT RECESSIVE IN 85 % OF CASES ....I THINK THIS POINT NEED TO BE REVIEWED , THANKS
XLAS (X-linked Alport Syndrome) - The most common form that accounts for 80% to 85% of the cases and results from mutations of the alpha-5 chain type IV collagen (gene COL4A5), alportsyndrome.org/alport-syndrome/alport-syndrome-genetics/ , Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked pattern, ghr.nlm.nih.gov/condition/alport-syndrome#inheritance Mutations in the COL4A5 collagen gene are responsible for the more common X-LINKED DOMINANT form of the disease , jasn.asnjournals.org/content/11/4/649.full ARAS (autosomal recessive Alport Syndrome) - This form accounts for 15% of the cases and is caused by mutations in the alpha-3 or alpha-4 chains (genes COL4A3 or COL4A4) , alportsyndrome.org/alport-syndrome/alport-syndrome-genetics/ , In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern. , ghr.nlm.nih.gov/condition/alport-syndrome#inheritance
You are absolutely correct and I am wrong. Its X-linked dominant. Its clarified on OMIM website. I will add an annotation on the video to correct this mistake. Thank you so much. Regards.
