Fanconi syndrome - Etiology, Clinical Features, Pathology, Diagnosis and Treatment
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- čas přidán 26. 07. 2024
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Fanconi syndrome - Etiology, Clinical Features, Pathology, Pathophysiology, Diagnosis and Treatment
Introduction
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Fanconi syndrome is categorized under Type 2 renal tubular acidosis in which the Inability of the proximal convoluted tubule cells to reabsorb HCO3-
Fanconi syndrome "not to be confused with Fanconi anemia" which is a defect in the proximal convoluted tubule in which amino acids, glucose, HCO3-, and PO43- are excreted rather than reabsorbed.
Fanconi anemia
• Hereditary autosomal recessive disorder due to a DNA crosslink repair defect resulting in bone marrow failure
Unlike other renal tubular defects e.g. Barrter, Gitleman, and Liddle syndromes, Fanconi syndrome is not a defect of a specific transporter, rather, it is a global defect in the PCT.
Causes of Fanconi syndrome include
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• Hereditary e.g. cystinosis, Wilson disease, tyrosinemia, glycogen storage disease type 1, Galactosemia
• Ischemia
• Heavy metals e.g. lead poisoning
• Multiple myeloma due to PCT light chain reabsorption
• Drugs e.g. expired tetracyclines, tenofovir, ifosfamide, cisplatin
• Light chain nephropathy e.g., multiple myeloma
• Amyloidosis
• Vitamin D deficiency
• Paroxysmal nocturnal hemoglobinuria
• Drugs: ifosfamide, tenofovir, expired tetracyclines, aminoglycosides
• Heavy metal poisoning e.g., lead, cadmium, mercury
Clinical Presentation
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The presentation of patients with Fanconi syndrome may be associated with a deficiency of any of the excreted solutes:
• Polyuria → polydipsia, hypovolemia
Polyuria
The production of an abnormally large amount of urine. Quantitatively defined as the passage of greater than 3 liters of urine in 24 hours.
Polydipsia
A condition of excessive thirst. It can be caused by organic e.g., dehydration, hypovolemia, hyperglycemia, diabetes insipidus, or non-organic conditions e.g., psychogenic polydipsia.
• Hypophosphatemic rickets in children; osteomalacia in adults due to loss of potassium
Due to phosphaturia and hypophosphatemia; vitamin D resistant rickets and osteomalacia are more severe among patients with Fanconi syndrome.
• Growth failure, due to acidosis and hypophosphatemia
• Nephrocalcinosis - Calcium stones are formed because calcium tends to precipitate in an alkaline solution. Calcium stones may be seen bilaterally.
• Calcium stones are formed because calcium tends to precipitate in an alkaline solution. Calcium stones may be seen bilaterally.
Failure of the PCT to reabsorb HCO3- can result in a proximal renal tubular acidosis "Type II RTA" in patients with Fanconi syndrome.
Diagnostics
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Serum
• Hyperchloremic metabolic acidosis,i.e., normal anion gap
• Hypokalemia that worsens with alkaline therapy
The degree of hypokalemia is usually mild when compared to type 1 RTA. However, hypokalemia worsens with the initiation of alkaline therapy. Severe hypokalemia may also be present in the case of Fanconi syndrome.
• Hypouricemia
• Hypophosphatemia
Urine
• Urine pH less than 5.5 Urine pH may be greater than 5.5 before acidosis sets in
• Bicarbonate infusion test: Urine pH rises above 7.5, and the fractional excretion of bicarbonate is less than 15% following IV sodium chloride administration.
Supplemental potassium should be given during the infusion because sodium chloride may induce hypokalemia.
• Negative urine anion gap
Fanconi syndrome
• Aminoaciduria
• Glucosuria despite normal or low serum glucose
• Phosphaturia
Treatment
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Alkali therapy with orally administered potassium citrate
• Potassium citrate is required in order to correct the hypokalemia that occurs with the initiation of alkali therapy.
Thiazide diuretics if alkali are not tolerated or effective
• Thiazide diuretics result in volume depletion and enhanced bicarbonate reabsorption.
This is as explicit as it gets. Bravo doc, you are an excellent teacher. Keep up the great work.
Tysm
Can't thank you enough! 35 years after my diagnose it is the first time that I understood what exactly it is and its symptoms.
Hi Can you pease share how you manage this diagnosis and what you do to treat what your quality of life is? Thank you you so much
@@johannarubin1980 Back in the 80's in Greece, there were only other 3 children with this diagnose. It always depends on how much deficiency one has. I was having a small deficiency in calcium ( I was 14 years old) and of course my glucose levels were low. The doctors told me to drink one liter of milk every day, and I guess I didn't get much of it because I was lactose intolerant, which I didn't know back then. Now I have Hashimoto autoimune and a severe gluten intolerance, so I avoid all gluten, even traces can be irritating to my gut. I also avoid lactose and most dairy because even lactose free products can be hard on my gut. Someone from a group told me that casein can be dificult to digest in people with fanconi syndrome, but I haven't find any research on this subject. Now I am 50 and I have almost perfect levels in my exams, except some glucose in urine but not always. It is dificult to be hydrated though, specially because I am in menopause and If I drink too much water I go to the toilet 10 minutes after.. I get tired easily but I have get used to itl. I hope I helped, feel free to ask anything.
The whole internal medicine part is covered in this video.... Great job 👍👍
Glad you liked it
RTA is one of the confusion list of topics in nephrology,
after watching your video its been clear along with physiology
thanks a lot for making such videos sir.....and i wish such kind of more videos will come in future..!
🤝🤝🤝
I wish i had got teacher like you during my mbbs study..
Thank you so much for your appreciation
This was an excellent presentation.
Saved me from going through the stress of making multiple researches
Hats off
Clear presentation with great correlation sir 👌👌👌
Thanks a lot
So amazing thank you so mcuh Dr. G
You are very welcome
This is so helpful for my presentation Thank u so much 🥺🙏
Ur most welcome
very well explained! Thanks a lot 🌹
Glad it was helpful!
Great work sir.
Many thanks.
Wow!!! SImple and clear. Awesome work.😍
Tysm
Waw it's so useful thanks so much ☺️👏
Ur most welcome
Perfection
nice video.Very complicated chapter is explained in simple easy way.
Thank you so much ...
Good one sir ..thanks for valuable info
Keep watching
Thanks a lot sir. Can't express how helpful this video has been.
You are most welcome
Great video and stache!
Glad you like them!
Great video. You are a good teacher :)
Tysm
Excellent 😅
Tysm
Great sir thanks alote
Thanks for liking
@@doctorbhanuprakash welcome sir,,I note your all lecture,,which are very helpful and conceptual
sir thank u very much sir
So nice of you
Nice
Thanks
did u do glomerular disease? i didnt find they, plz answer me
🙂
Hi I have a question why the ph of urine is low I mean it is acidic even bicarbonate is excrete ?? Pls help🥺
How can i subscribe to your app sir... i am in 1st year .... i want to learn only and only from you throughout my mbbs
Contact : +919885588972 ( whatsapp )
i want to copy tese images how
you are such a fantasitc professor!!!! god bless you
Wow, thank you!.
why hyperchloremia ocures🤨