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Series 3 episode 8. HNF1Beta syndrome: kidney disease, diabetes, liver dysfunction and much more
Manage episode 459785416 series 3528389
Grant King talks about his diagnostic journey where his low birth weight, childhood kidney disease, diabetes, liver dysfunction and infertility were at 32 years finally recognised as all being due to a change in the HNF1Beta gene. Dr Coralie Bingham explains how her research during her PhD in Exeter led to HNF1Beta being established as the commonest cause of inherited kidney disease and all the key parts of the HNF1Beta syndrome being recognised.
32 에피소드
Manage episode 459785416 series 3528389
Grant King talks about his diagnostic journey where his low birth weight, childhood kidney disease, diabetes, liver dysfunction and infertility were at 32 years finally recognised as all being due to a change in the HNF1Beta gene. Dr Coralie Bingham explains how her research during her PhD in Exeter led to HNF1Beta being established as the commonest cause of inherited kidney disease and all the key parts of the HNF1Beta syndrome being recognised.
32 에피소드
모든 에피소드
×1 Series 3 Episode 9. Ru Kovvuri and Rhian Clissold Cognitive and medical impacts of the HNF1B deletion syndrome 37:44
1 Series 3 episode 8. HNF1Beta syndrome: kidney disease, diabetes, liver dysfunction and much more 48:13
1 Series 3 episode 7. Natalie Raphael and Alice Hughes Testing fetal genetics using mum’s blood in Glucokinase pregnancy 37:05
1 Series 3 episode 6. Gill Preston, Gill Spyer, and Ali Chakera The challenge of diagnosing and managing glucokinase MODY in pregnancy 37:38
1 Series 3 episode 5. Andrew Lotery and Amanda Stride: Glucokinase MODY – a mildly raised fasting glucose for life that should not be treated 32:38
1 Series 3 episode 4. Janette and Alice: Big babies with dangerously low blood sugars in HNF4A MODY 33:54
1 Series 3 episode 3. Mary Lee and Ewan Pearson: Finding the best treatment for HNF1A MODY 27:48
1 Series 3 episode 2. Kevin Colclough and Bev Shields Making sure the right patients get the right genetic test for MODY 26:25
1 Series 3 episode 1. Mary Humphries: The doctor didn’t listen! A delayed diagnosis of MODY 29:01
1 Series 2 episode 9. Nick Thomas. Type 1 diabetes in the older adult 24:04
1 Series 2 episode 8. Simon Goode and Angus Jones. Diagnosing Type 1 diabetes is difficult in older adults 38:57
1 Series 2 Episode 7. Jean Claude Katte. Type 1 Diabetes in Africa: different in so many ways. 35:45
1 Series 2 episode 6. Mendy Korer and Matt Johnson. Type 1 diabetes in very young children: a massive challenge for families and scientists 47:35
1 Series 2 Episode 5. Richard Oram . Genius genetics improves diagnosis and prevention of Type 1 diabetes 29:58
1 Series 2 Episode 4. Partha Kar. The super hero who made sure Type 1 diabetes technology was for everyone 40:51
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