Autosomal dominant hyperuricemia, gout, renal cysts, and progressive renal insufficiency are hallmarks of a disease complex comprising familial juvenile hyperuricemic nephropathy and medullary cystic kidney diseases type 1 and type 2. In some families the disease is associated with mutations of the gene coding for uromodulin, but the link between the genetic heterogeneity and mechanism(s) leading to the common phenotype symptoms is not clear. In 19 families, we investigated relevant biochemical parameters, performed linkage analysis to known disease loci, sequenced uromodulin gene, expressed and characterized mutant uromodulin proteins, and performed immunohistochemical and electronoptical investigation in kidney tissues. We proved genetic heterogeneity of the disease. Uromodulin mutations were identified in six families. Expressed, mutant proteins showed distinct glycosylation patterns, impaired intracellular trafficking, and decreased ability to be exposed on the plasma membrane, which corresponded with the observations in the patient's kidney tissue. We found a reduction in urinary uromodulin excretion as a common feature shared by almost all of the families. This was associated with case-specific differences in the uromodulin immunohistochemical staining patterns in kidney. Our results suggest that various genetic defects interfere with uromodulin biology, which could lead to the development of the common disease phenotype. 'Uromodulin-associated kidney diseases' may be thus a more appropriate term for this syndrome.

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Ultimately, the sustainability of nurses' moral identities may be dependent on the recognition of their own needs for professional satisfaction and care in ways that go beyond the kind of acknowledgement that patients can offer.

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Advocacy has been positioned as an ideal within the practice of nursing, with national guidelines and professional standards obliging nurses to respect patients' autonomous choices and to act as their advocates. However, the meaning of advocacy and autonomy is not well defined or understood, leading to uncertainty regarding what is required, expected and feasible for nurses in clinical practice. In this article, a feminist ethics perspective is used to examine how moral responsibilities are enacted in the perinatal nurse-patient relationship and to explore the interaction between the various threads that influence, and are in turn affected by, this relationship. This perspective allows for consideration of contextual and relational factors that impact on the way perinatal nursing care is given and received, and provides a framework for exploring the ways in which patient autonomy, advocacy and choice are experienced by childbearing women and their nurses during labour and birth.