TY  - JOUR
A1  - Sathyanarayana, Vijaya
A1  - Lee, Beth
A1  - Wright, Neville B.
A1  - Santos, Rui
A1  - Bonney, Denise
A1  - Wynn, Robert
A1  - Patel, Leena
A1  - Chandler, Kate
A1  - Cheesman, Ed
A1  - Schindler, Detlev
A1  - Webb, Nicholas J. A.
A1  - Meyer, Stefan
T1  - Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management
JF  - Pediatric Nephrology
N2  - Fanconi 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. We 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. Thirty 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. Evaluation 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.
KW  - Fanconi anaemia
KW  - Renal abnormalities
KW  - Long-term follow-up
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-227400
VL  - 33
IS  - 9
ER  - 
TY  - JOUR
A1  - Dindas, Julian
A1  - Scherzer, Sönke
A1  - Roelfsema, M. Rob G.
A1  - Meyer, Katharina von
A1  - Müller, Heike M.
A1  - Al-Rasheid, K. A. S.
A1  - Palme, Klaus
A1  - Dietrich, Petra
A1  - Becker, Dirk
A1  - Bennett, Malcolm J.
A1  - Hedrich, Rainer
T1  - AUX1-mediated root hair auxin influx governs SCFTIR1/AFB-type Ca2+ signaling
JF  - Nature Communications
N2  - Auxin is a key regulator of plant growth and development, but the causal relationship between hormone transport and root responses remains unresolved. Here we describe auxin uptake, together with early steps in signaling, in Arabidopsis root hairs. Using intracellular microelectrodes we show membrane depolarization, in response to IAA in a concentration- and pH-dependent manner. This depolarization is strongly impaired in aux1 mutants, indicating that AUX1 is the major transporter for auxin uptake in root hairs. Local intracellular auxin application triggers Ca2+ signals that propagate as long-distance waves between root cells and modulate their auxin responses. AUX1-mediated IAA transport, as well as IAA- triggered calcium signals, are blocked by treatment with the SCFTIR1/AFB - inhibitor auxinole. Further, they are strongly reduced in the tir1afb2afb3 and the cngc14 mutant. Our study reveals that the AUX1 transporter, the SCFTIR1/AFB receptor and the CNGC14 Ca2+ channel, mediate fast auxin signaling in roots.
KW  - auxin
KW  - permeation and transport
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-225368
VL  - 9
ER  -