Pollicization of the index finger in <scp>F</scp>anconi anaemia: appearances and functionality 40 years after the intervention

Stivaros, Stavros; Punekar, Maqsood; Chandler, Katherine; Rost, Isabell; Schindler, Detlev; Meyer, Stefan

doi:10.1111/bjh.12996

Cited by 3 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…FA results from the disruption of a DNA damage response pathway in which proteins encoded by at least 16 FA genes that have been identified to date (FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, Q). 1 Mutations in FANCD1/BRCA2 cause FA in 3-5% of cases 2 and link FA to inherited breast and ovarian cancer.…”

Section: Introductionmentioning

confidence: 99%

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

Stivaros¹,

Alston²,

Wright³

et al. 2015

BJR

Self Cite

View full text Add to dashboard Cite

Section: Introductionmentioning

confidence: 99%

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

Stivaros¹,

Alston²,

Wright³

et al. 2015

BJR

Self Cite

View full text Add to dashboard Cite

“…On histological examination, this showed complete disorganization of the renal parenchyma with extensive fibrosis and partly cystically dilated tubules cuffed by primitive mesenchyme (patient 22, Supplemental Figure 4 ). Follow-up data longer than 5 years (range 5 to > 25 years) were available for 23 cases, of which three patients have not undergone HSCT, including a middle-aged female diagnosed in childhood with classic phenotype FA with a pelvic kidney and only subtle haematological abnormalities (patient 18) [ 11 ], and two are awaiting HSCT. During long-term follow-up after diagnosis and HSCT, three patients were noted to have biochemical evidence of CKD (eGFR 20–40 ml/min/1.73m 2 ).…”

Section: Resultsmentioning

confidence: 99%

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management

et al. 2018

Self Cite

View full text Add to dashboard Cite

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.Electronic supplementary materialThe online version of this article (10.1007/s00467-018-3952-0) contains supplementary material, which is available to authorized users.

show abstract

“…Congenital abnormalities involving the hand and forearm are one of the classic features of FA , and should be assessed by a specialist surgical team, with decisions about operative approaches made on the basis of the extent of the abnormalities and functional aspects. Absent and severely hypoplastic thumbs can be managed with pollicisation of the index finger which can give satisfactory long term results in terms of functionality and appearances .…”

Section: Fanconi Anaemia – Clinical Management In Childhoodmentioning

confidence: 99%

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

et al. 2014

View full text Add to dashboard Cite

Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects.

show abstract

Pollicization of the index finger in Fanconi anaemia: appearances and functionality 40 years after the intervention

Cited by 3 publications

References 0 publications

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

Central nervous system abnormalities in Fanconi anaemia: patterns and frequency on magnetic resonance imaging

Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

Contact Info

Product

Resources

About