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Printable Handouts
Navigable Slide Index
- Introduction
- Proximal tubular diseases
- Diseases of glucose reabsorption
- Glucose reabsorption in the proximal tubule
- Renal glucosuria
- Renal glucosuria; GLYS: OMIM #233100
- Glucose/galactose malabsorption: OMIM #606824
- Clinical symptoms; GGM: OMIM #606824
- Fanconi-Bickel syndrome; FBS: OMIM #227810
- Clinical symptoms of Fanconi-Bickel syndrome
- Diseases of bicarbonate reabsorption
- Proximal tubule bicarbonate reabsorption
- OPTB3: OMIM #259730
- Renal tubular acidosis: OMIM #604278
- Diseases of receptor-mediated endocytosis
- Megalin (LRP2) and CLCN5
- Donnai-Barrow (FOAR) syndrome: OMIM #222448
- OMIM #222448: clinical symptoms
- Dent disease 1: OMIM #300009
- Clinical symptoms: Dent disease 1
- Diseases of amino acid handling
- Proximal tubule handling of amino acids
- Cystinuria; OMIM #220100
- Lysinuric protein Intolerance; OMIM #222700
- Thick ascending limb diseases
- Familial juvenile, hyperuricemic nephropathy
- FJHN: OMIM #162000
- FJHN: Main features
- Barrter syndrome
- Barrter syndrome; mutations
- Barrter syndrome; characteristics
- Distal tube and collecting duct diseases
- Gitelman syndrome; OMIM #262800
- Collecting duct
- Diabetes Insipidus
- Summary 1: glomerular diseases
- Summary 2: proximal tubular diseases
- Summary 3:other tubular diseases
- Take home message
Topics Covered
- Genetically linked proximal tubular diseases
- Genetically linked thick ascending limb diseases
- Genetically linked distal tube & collecting duct diseases
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Jennings, P. (2016, December 28). Molecular basis of genetic renal diseases 2 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved November 21, 2024, from https://doi.org/10.69645/PJRO3902.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Paul Jennings has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Molecular basis of genetic renal diseases 2
Published on December 28, 2016
25 min
Other Talks in the Series: The Kidney in Health and Disease
Transcript
Please wait while the transcript is being prepared...
0:03
Now we'll move along
to the proximal tubule,
and there's a number
of inherited proximal tubular diseases.
0:13
The first of these we will discuss
are diseases of glucose reabsorption.
0:20
Under normal conditions,
all of the glucose is removed
as it passes
through the proximal tubule,
and this is achieved
due to different apical
and basolateral glucose transporters,
the first of which is the sodium-glucose
transporter type 2,
which is encoded by the SLC5A2;
This is a low affinity,
high capacity transporter
present on the apical side of the cells,
and it's present in the S1 segment.
The second transporter
is the sodium-glucose transporter
type 1,
which is a high affinity,
low capacity transporter.
It is not only responsible for glucose
and sodium transport
but can also transport galactose,
and this is present in the S3 segment
of the proximal tubule
also on the apical side.
Glucose that's brought
into the proximal tubule
is removed on the basolateral side
through GLUT2,
which is also a sodium-glucose
and galactose co-transporter,
and it's encoded by the SLC2A2.
Now SGLT2 has recently become a target
to try and alleviate
the symptoms of diabetes
by blocking this protein
and allowing glucose and sodium
to continue the journey
through the rest of the nephron.