Box 2.

Case vignette 2.

Part 1
Age	A 15-year-old girl
Diagnosis	Dyskeratosis congenita, diagnostically assured, caused by TERC-mutation that impairs telomere function
Prognosis	Progressive loss of the self-renewal capacity of all stem cells, particularly of the hematopoietic system, skin, mucous membranes, and liver
	Risk of severe pulmonary disease, particularly in patients with previous blood stem cell transplantation
Medical history	Diagnosis established at the age of 11 years
	Three blood stem cell transplantations for the treatment of bone marrow failure, graft-versus-host reaction
	Hospital admission 8 weeks ago, able to walk and express herself clearly at admission
Current status	Chronic liver failure, beginning renal and respiratory insufficiency, transfer to intensive care unit
	Severe pain caused by osteoporosis and multiple fractures, hypercalcemia
	Increased ammonia level, somnolence shortly after hospital admission, episodes of delirium
Question asked	How do you judge the medical indication for the liver transplantation?
Part 2
Further disease course after liver transplantation	Values of ammonia and parameters of liver and kidney function rapidly normalize after liver transplantation
	No improvement of clinical condition, persisting somnolence, skeletal pain
	Patient refuses to eat
	Acute heart failure with severe arrhythmia, caused by myocardial fibrosis
Prognosis	Possible damage to liver graft by heart failure, low chance of medical recompensation of cardiac function
Question asked	How do you judge the medical indication for the heart transplantation?

TERC: telomerase RNA component.