This week Dr. Elizabeth Forsythe and her colleagues in the United Kingdom have published an important article on renal disease in BBS. This paper combined with the recent paper published by our group using data from the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) provides information from a total of 556 children and adults with BBS. The two papers confirm that advanced chronic kidney disease (designated as CKD stages 4 and 5) usually occurs in the pediatric years. Adults with BBS infrequently develop a need for dialysis or transplantation. It is important to recognize that CKD4 and CKD5 occurred in less than 10% of patients in the United Kingdom report as well as in CRIBBS participants. Dr. Forsythe’s publication correlates more severe kidney disease with structural changes on renal ultrasound; BBS2, BBS10, and BBS12 genotypes & truncating gene mutations compared to missense mutations.
It is essential to be aware that based on information from CRIBBS as well as Dr. Forsythe’s publication that adults can and do develop kidney failure. It is critical that effective blood pressure control, effective treatment of diabetes, identification & treatment of sleep apnea and weight management continue throughout the entire lifespan for individuals with BBS to promote good health including long-term kidney health. Links to Dr. Forsythe publication as well as the recent CRIBBS publication investigating renal transplantation in BBS are provided below:
Risk Factors for Severe Renal Disease in BBS
Renal Transplantation in BBS from CRIBBS
I encourage your participation and support for the Clinical Registry Investigating BBS (CRIBBS) as a critical tool to move forward in BBS research. Our registration link is:
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