Fanconi Syndrome - Renal Proximal convoluted tubule defect - RTA - Pathology

Fanconi Syndrome - Renal Proximal convoluted tubule defect - Pathology.
Fanconi syndrome is a defective proximal convoluted tubule (PCT) of the kidney.
Don't confuse this with Fanconi Anemia (an autosomal recessive disease, causing aplastic anemia and pancytopenia).
Fanconi syndrome leads to type 2 (proximal) renal tubular acidosis (RTA).
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[@hebahammoudi7160]

This is definitely my new favorite medical channel, the way you describe everything is amazing!

[@MedicosisPerfectionalis]

Thank you!

[@Ryan-jv9se]

This guy is not just a genius but the best teacher..I love his style. Thank you so much for all that you put into these videos Medicosis. Btw just being semantic here but tenofovir is a nucleotide not a nucleoside RTI

[@MedicosisPerfectionalis]

Oops! You’re right! Sorry about that, and thanks a ton for your kind words!

[@precious-chuksstance8103]

Fanconi syndrome ---- generalized aminoaciduria while Hartnup dx----- neutral aciduria( such as tryptophan glutamine etc)

[@MedicosisPerfectionalis]

Excellent 👍👍

[@MedicosisPerfectionalis]

👨‍🏫 Nephrology Playlist: kzbin.info/aero/PLYcLrRDaR8_d7bEi4DvucO73N4N_1vvPk

[@MedicosisPerfectionalis]

🐳 Nephrology Playlist: kzbin.info/aero/PLYcLrRDaR8_d7bEi4DvucO73N4N_1vvPk

[@Sevendandra]

Oh my gosh! I chose this for my clinical chemistry and U.A. case study and I'm so glad you covered this!

[@MedicosisPerfectionalis]

Awesome 👏 Go crush it 👍👍

[@Girlinterrupted955]

I wish you were my lecturer at university!

[@MedicosisPerfectionalis]

I appreciate you so much!

[@mubasshiramaryamkhan302]

In Hartnup disease there'll be failure to reabsorb tryptophan and thus will show signs of (pellagra) niacin deficiency and is not associated with metabolic acidosis and other electrolyte deficiencies.

[@Ask_Dr_Arik]

Super excellent explanation and very straightforward ❤

[@MedicosisPerfectionalis]

Thank you!

[@Patsy1985]

I was recently diagnosed with acquired fanconi syndrome due to high dose Ifosfamide chemo five years ago. Seeking out my best options right now, leaning towards Mayo.

[@johannarubin1980]

HI can I ask you how you have been treating this please? I may have this looking for answers

[@Patsy1985]

I saw an onco-nephrologist at Mayo in Rochester, MN. She confirmed the findings and has me on a daily medication called PHOS-NAK. It’s a combo of potassium, phosphorus, and sodium. Seems to be working great. Hospitalizations have reduced by 95% since ‘21. A kidney transplant is still in the future but this should hold it off for a while.🤞🏻

[@johannarubin1980]

@@Patsy1985 wow thats great!!! May I ask how you were diagnosed? What findings were there??? Do you have a facebook or e-mail so I can ask you some questions?

[@Qwerty3456]

very conceptual lecture!

[@MedicosisPerfectionalis]

Thank you...I really do appreciate it!

[@ElnaKruger]

Pediatricians are idiots, when they say, "this infant is dehydrated," "NO, he's volume depleted!" XD you're brilliant.

[@MedicosisPerfectionalis]

Thank you ☺️

[@hdh2179]

amazing job honestly you're very talented

[@MedicosisPerfectionalis]

Thank you 🙏

[@imasuperkoala]

What happens in an euvolemic patient with acidosis, giving bicarb will also affect K. In this case what would the reason? Because aldosterone should not be high thus the Na-K would not be stimulated. Can someone please explain. Thanks

[@shafiqkharal3351]

My son is facing this disease , want to know about the best treatment of this disease. or the best doctor for this disease.

[@IbrahimNegm]

I guess the footage in the beginning of the video is recorded in Oman, right ?

[@anonymous_saint]

thank u for this video. u made it super easy .lots of love.

[@MedicosisPerfectionalis]

Thank you ☺️

[@nugentmichael]

This was impressive.

[@Jkawalsky1]

should def be decreased skin turgor not increased

[@rashadovchuyev2199]

Perfection!

[@MedicosisPerfectionalis]

Thank you!

[@muhammadabdelrahman337]

You're incredibly smart. Thank you so much ❤

[@Yan-pg1rs]

Hi Medicosis? When can you do a vedio about different types of RTAs? I really need it.

[@MedicosisPerfectionalis]

I have it already! It was discussed in a video titled: “NAGMA and RTA”…You can find it in my nephrology playlist.

[@ananthupadmanabhan9316]

Hey! great video. Just one doubt. Shouldn't skin turgor decrease in dehydration. You mentioned it increases at 9:10.

[@MedicosisPerfectionalis]

You're correct. I should just say "poor skin turgor" or "skin tenting"

[@ananthupadmanabhan9316]

@@MedicosisPerfectionalis Cool. thanks for the clarification.

[@arpithbhatt6133]

Great explaination 👍

[@MedicosisPerfectionalis]

Thank you 🙏

[@anjuchandrasekhar1740]

Each word is a gold medal qn. In Awe. 👍👍👍

[@MedicosisPerfectionalis]

Thank you 😊

[@muhammadaliaslam4023]

@Medicosis Perfectionalis why do we give Loop Diuretics to Fanconi Patient even though he or she is volume deprived just for Acidosis?

[@thureinzaw7779]

Isn’t it supposed to be hyperkalemia since Na/K pump doesn’t work and unable to excrete potassium? Please kindly explain me sir.. i’m confused

[@hadeeladham1844]

Thank you so much.

[@MedicosisPerfectionalis]

My pleasure 😇

[@bhaveshgarg8142]

Why does kidney absorbs only water incases of heart faliure?

[@dr.leelaram]

Great explanation dear❤

[@GeralySantanaBautista]

WOWWWWWWW Thank you so much.

[@MedicosisPerfectionalis]

My pleasure!

[@fabulosa002]

Hatnup doesn't have increased urine pH, glucosuria, and all the other urias. also phosphorus and calcium are normal in hartnup

[@ABC-fv7ow]

Gr8.but why high K+ in urine?didnt understand

[@MedicosisPerfectionalis]

Because the Na/K pump on the basolateral border of the proximal convoluted tubule cell is not working.

[@ABC-fv7ow]

Thats what I am saying sir.when k+ has not entered cells from blood,how it is passing more in urine?Pls help sir.

[@irwincrook567]

Just play him in 1.5x speed and he is the best person to explain anything

[@MedicosisPerfectionalis]

Thank you so much 😊

[@mohamedezzat6651]

Thank you for this nice lecture

[@MedicosisPerfectionalis]

My pleasure 😇

[@Zain_altouka]

Amazing job 🥰🤍🤍🤍

[@MedicosisPerfectionalis]

Thank you 🤗

[@codrut913]

One of the best !!

[@b2dgmedia210]

Would you be able to recommend the best specialist in the U.S. to seek help in treating this disease? TIA

[@MedicosisPerfectionalis]

I don’t know 🤷‍♂️

[@T1201]

Email [e-mail]

[@sindhusutanayak7657]

Very nice

[@MedicosisPerfectionalis]

Thanks 🙏

[@BhavyaKansal18]

Fanconi Syndrome is not the same as fanconi-bickel syndrome right?

[@fatemaatia4385]

Fanconi bickel syndrome is one of the hereditary causes of proximal tubular dysfunction ( fanconi syndrome )

[@srinivasaraosirasapalli5104]

nice

[@MedicosisPerfectionalis]

Thanks 🙏

[@Nicu-Live]

laughed so hard when he said....pediatricians are idiots 😂😂

[@MedicosisPerfectionalis]

I was joking 🙃

[@mobenkane2075]

DECREASE SKIN TURGOR , DUE TO DECREASE SKIN RESILIENCE !!!!!!

[@MedicosisPerfectionalis]

I don’t understand

[@gracecabungcal4392]

he is saying .. it should be decreased skin turgor not increase...

[@MedicosisPerfectionalis]

Are you talking to me or to Moben?

[@tiotio3185]

@@MedicosisPerfectionalis You said: TBNa decreased...and skin turgor increased because of decreased skin resilience...I think he was right to say decrease skin turgor, due to decreasing skin resilience.

[@greatman205ftw]

dont tell me what to do XD im here for fanconi syndrome and anemia and dont have extra 15 mins to waste on 2nd course physiology of PCT

[@DoctorCiaran]

I like these videos and generally enjoy the style and humour but some times it's a bit unnecessary, "paediatricians are idiots" for example, I know it's not meant literally but it's not funny either and just encourages the confrontational vibe that already plagues interdisciplinary medicine.

[@MedicosisPerfectionalis]

It was just a joke. If you don’t like it, that’s fine. I completely understand. Thank you so much for watching! It means a lot!

[@DoctorCiaran]

@@MedicosisPerfectionalis I get you, I don't want to be over-sensitive, just imo sometimes they remind me of old school consultant bullying etc. I know that's not what you are going for though, and totally subjective, and your videos are obviously fantastic. Thanks for the reply.

[@srinivasaraosirasapalli5104]

nice

[@MedicosisPerfectionalis]

Thanks 🙏