Dataset Information

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

ABSTRACT:

Background

A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases.

Methods

Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing.

Results

Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case.

Conclusions

Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis.

SUBMITTER: Iqbal Z

PROVIDER: S-EPMC5443337 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Publications

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

Iqbal Zahra Z Sayer John A JA

F1000Research 20170412

<h4>Background</h4>A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases.<h4>Methods</h4>Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing.<h4>Results</h4>Through next generation sequencing approaches, we identified a pathogenic mutation in <i>T ...[more]

PMID: 28580132

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Project description:BackgroundMedical decision-making is critical to patient survival and well-being. Patients with end stage renal disease (ESRD) are faced with incrementally complex decision-making throughout their treatment journey. The extent to which patients seek involvement in the decision-making process and factors which influence these in ESRD need to be understood.Methods535 ESRD patients were enrolled into the cross-sectional study arm and 30 patients who started dialysis were prospectively evaluated. Patients were enrolled into 3 groups- 'predialysis' (group A), 'in-centre' haemodialysis (HD) (group B) and self-care HD (93 % at home-group C) from across five tertiary UK renal centres. The Autonomy Preference Index (API) has been employed to study patient preferences for information-seeking (IS) and decision-making (DM). Demographic, psychosocial and neuropsychometric assessments are considered for analyses.Results458 complete responses were available. API items have high internal consistency in the study population (Cronbach's alpha > 0.70). Overall and across individual study groups, the scores for information-seeking and decision-making are significantly different indicating that although patients had a strong preference to be well informed, they were more neutral in their preference to participate in DM (p < 0.05). In the age, education and study group adjusted multiple linear regression analysis, lower age, female gender, marital status; higher API IS scores and white ethnicity background were significant predictors of preference for decision-making. DM scores were subdivided into tertiles to identify variables associated with high (DM > 70: and low DM (≤30) scores. This shows association of higher DM scores with lower age, lower comorbidity index score, higher executive brain function, belonging in the self-caring cohort and being unemployed. In the prospectively studied cohort of predialysis patients, there was no change in decision-making preference scores after commencement of dialysis.ConclusionESRD patients prefer to receive information, but this does not always imply active involvement in decision-making. By understanding modifiable and non-modifiable factors which affect patient preferences for involvement in healthcare decision-making, health professionals may acknowledge the need to accommodate individual patient preferences to the extent determined by the individual patient factors.

Dataset Information

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

Background

Methods

Results

Conclusions

Publications

Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives.

Similar Datasets

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