Abstract
BackgroundFanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse.MethodsWe reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA.ResultsThirty patients including four sibling sets were reviewed. On imaging, 14 had evidence of anatomical abnormalities of the kidneys. Two cases with severe phenotype, including renal abnormalities, had chronic kidney disease (CKD) at diagnosis. Haematopoietic stem cell transplantation was complicated by significant acute kidney injury (AKI) in three cases. In three patients, there was CKD at long-term follow-up. All patients had normal blood pressure.ConclusionsEvaluation of renal anatomy with ultrasound imaging is important at diagnostic workup of FA. While CKD is uncommon at diagnosis, our data suggests that the incidence of CKD increases with age, in particular after haematopoietic stem cell transplantation. Monitoring of renal function is essential for management of FA. Based on these long-term clinical observations, we formulate some practical guidelines for assessment and management of renal abnormalities in FA.
Highlights
Fanconi anaemia (FA) is an inherited disease associated with variable congenital and developmental abnormalities, bone marrow failure, and cancer predisposition
To address the relevance of patterns and frequency of renal abnormalities for long-term follow-up, we reviewed the incidence and patterns, and the clinical course of patients with FA in our centre together with available genetic data to aid the formulation of guidelines for the management of FA-associated renal problems
Four sibling sets were included in our study cohort, of which one pair had small dysplastic kidney in one sibling, which was further assessed by magnetic resonance (MR) imaging
Summary
Fanconi anaemia (FA) is an inherited disease associated with variable congenital and developmental abnormalities, bone marrow failure, and cancer predisposition. Over the last 20 years with improved outcome of haematopoietic stem cell transplantation (HSCT) and supportive treatment, the clinical course of FA has changed dramatically, and many individuals with FA reach their third and fourth decade after correction of haematopoietic failure For these patients, other problems associated with the underlying genetic defect become increasingly relevant for long-term management. Implications of renal abnormalities for the long-term management have not been fully assessed, and detailed guidelines for the diagnosis and management of renal abnormalities in FA have not been formulated These should consider the inherited DNA repair defect and minimize the use of X-rays, because of the potential harm caused in chromosomal instability syndromes such as FA [9]. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse
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