- What is the diagnosis?
She has scleroderma with renal involvement and malignant hypertension.
- What additional laboratory findings would you suspect?
Her antinuclear antibody test will probably be positive (with an anti-nucleolar pattern). The most specific autoantibody for her disease is anti-DNA topoisomerase I. The ANA with an anti-centromeric pattern would be more typical for CREST syndrome in which severe renal disease is less likely.
- What other organs may be affected by this disease?
The skin shows sclerodactyly. Fibrosis in the gastrointestinal tract with dysmotility and/or malaborption is common. Pulmonary fibrosis may also occur.
- What is the course of this disease?
Patients with diffuse scleroderma (diffuse systemic sclerosis) and malignant hypertension may die from renal failure. Those without severe hypertension may die from restrictive lung disease and cor pulmonale. The course of CREST syndrome is more benign.
- If persons with renal disease develop chronic renal failure, what are treatment options?
The only long-term treatment options are hemodialysis and transplantation. Persons can live for decades with either option, but the overall quality of life and survival tends to be higher with transplantation.
- In cases where renal transplantation is considered, who provides the allograft, and what are ethical issues related to this decision?
Allografts from living donors are more common than those from cadavers, and that is really saying something since cadavers can each provide a kidney to TWO different recipients!
So who are all these living donors? Mostly close family members. This is the case both for tissue matching reasons and also ethical reasons: to make sure it is done out of love, and not for financial motives. Spouses used to be uncommon, because of tissue matching concerns. Interestingly, they've been shown to have low rejection rates. A few years together and our immune systems seem to blur the self-nonself line between ourself and our spouse. Interesting: love and immunology.
But what has love got to do with it? Should it be a requirement? Why not let strangers donate? Part is fear that there is money changing hands under the table. But what is wrong with that? Some economists think we should allow it. And even if we frown on that, there are true altruistic strangers willing to donate. Should we allow it? Very controversial. Some people think those strangers are not thinking clearly! It seems the things praised by most religions are very much suspect by the assumptions about rationality in both medicine and ethics.
