Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and youn
- PDF / 384,796 Bytes
- 9 Pages / 595.276 x 790.866 pts Page_size
- 97 Downloads / 251 Views
GUIDELINES
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020 Clifford E. Kashtan 1
&
Oliver Gross 2
Received: 15 July 2020 / Revised: 24 August 2020 / Accepted: 8 October 2020 # IPNA 2020
Abstract In 2013, we published a set of clinical practice recommendations for the treatment of Alport syndrome in this journal. We recommended delaying the initiation of angiotensin-converting enzyme inhibition until the onset of overt proteinuria or, in some cases, microalbuminuria. Developments that have occurred over the past 7 years have prompted us to revise these recommendations. We now recommend the initiation of treatment at the time of diagnosis in males with X-linked Alport syndrome and in males and females with autosomal recessive Alport syndrome. We further recommend starting treatment at the onset of microalbuminuria in females with X-linked Alport syndrome and in males and females with autosomal dominant Alport syndrome. This article presents the rationale for these revisions as well as recommendations for diagnostic tactics intended to ensure the early diagnosis of Alport syndrome. Keywords Alport syndrome . Collagen IV . Hematuria . Microalbuminuria . Proteinuria . Treatment recommendations . Angiotensin-converting enzyme inhibition
The Opportunity Introduction In 2013, we and several of our colleagues published “Clinical Practice Recommendations for the Treatment of Alport Syndrome” in this journal [1]. We recommended angiotensin-converting enzyme inhibition (ACEi) as firstline therapy in any patient with a diagnosis of Alport syndrome and overt proteinuria. For some patients—males with X-linked Alport syndrome (XLAS) and a truncating COL4A5 variant or family history of kidney replacement therapy or renal death prior to age 30, and males and females with autosomal recessive Alport syndrome (ARAS)—we
* Clifford E. Kashtan [email protected] 1
Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Medical School, 2450 Riverside Avenue, Minneapolis, MN 55454, USA
2
Department of Nephrology and Rheumatology, University Medical Center Goettingen, Goettingen, Germany
recommended consideration of ACEi at the time of detection of microalbuminuria. We suggested specific dosing regimens, therapeutic targets, and second-line therapies. We have been prompted to revisit and update these recommendations by developments that have occurred in the 7 years since their publication. These developments include insights regarding the genetics of Alport syndrome arising from unbiased sequencing studies, new ideas about the classification of phenotypes associated with collagen IV gene variants and the results of retrospective and prospective studies of responses to ACEi treatment in patients with Alport syndrome. Here, we also emphasize that a significant percentage of patients with the histological changes of focal segmental glomerulosclerosis (FSGS) are found to have pathologic collagen IV gene variant
Data Loading...
