Clinical cases
The following three clinical cases of primary BASDs may provide a clearer clinical picture of these disorders and their eventual diagnosis.
Clinical case 1
Clinical case 3
Twin girls presenting with refractory vitamin D-deficiency rickets and failure to thrive at 6 months of age.3
Clinical case 2
Explore “How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.
Clinical case 2
Twin girls admitted to hospital at 8 months of age for progressive cholestasis and liver failure.4
Clinical case 5
Explore “ How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.
Clinical case 1
Clinical case 2
Explore “ How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.
Clinical case 2
Clinical case 3
Twin girls presenting with refractory vitamin D-deficiency rickets and failure to thrive at 6 months of age.3
Clinical case 5
Explore “ How to diagnose bile acid synthesis disorders” via the story of Lucas: a 1 year old boy with suggestive signs and symptoms of chronic cholestatic liver disease.
1. Rinawi F, Iancu TC, Hartman C, et al. Fat malabsorption due to bile acid synthesis defect. Isr Med Assoc J. 2015;17(3):190-192.
3. Adapted from: Ahmad O, Nogueira J, Heubi JE, Setchell KDR, Ashraf AP. Bile Acid Synthesis Disorder Masquerading as Intractable Vitamin D-Deficiency Rickets. J Endocr Soc. 2018;3(2):397-402. Published 2018 Dec 31. doi:10.1210/js.2018-00314
4. Gonzales E, Cresteil D, Baussan C, et al. SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. J Hepatol 2004;40(4):716-8. doi: 10.1016/j.jhep.2003.12.024 [published Online First: 2004/03/20]
CTRS-INSTIT-PLATEDUC-ONG13/20/07/20
