Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Caba, Lavinia; Florea, Laura; Braha, Elena; Lupu, Vasile Valeriu; Gorduza, Eusebiu Vlad

doi:10.2147/jmdh.s274739

Cited by 8 publications

(9 citation statements)

References 85 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For individuals with BBS, an annual assessment of fasting blood glucose, HbA1c, and lipid levels (triglycerides, HDL-C, LDL-C, and total cholesterol) is recommended. Additionally, for better quality of life, reduced-calorie diet and lifestyle changes such as regular exercise program are suggested 8 . For pharmaceutical management, it is noteworthy that setmelanotide, a melanocortin-4 receptor (MC4R) agonist, was the first drug approved by the United States Food and Drug Administration (FDA).…”

Section: Discussionmentioning

confidence: 99%

“…As BBS is a multisystem disorder, afflicted patients may commonly experience systemic effects, such as hypertension and metabolic abnormalities. To date, at least 26 genes associated with BBS have been identified 1 , 8 , 9 . These genes encode various components, including the BBSome complex, BBS-chaperonin complex, and other BBS proteins that function independently 10 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers

Li,

Chen,

Yang

et al. 2024

Int. J. Med. Sci.

View full text Add to dashboard Cite

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities. Nevertheless, previous studies on the phenotypic traits of BBS heterozygous carriers have generated inconclusive results. The aim of our study was to investigate the impact of BBS heterozygosity on carriers when compared to non-carriers within the Taiwanese population. Materials and Methods: This study follows a hospital-based case-control design. We employed the Taiwan Biobank version 2 (TWBv2) array to identify three specific loci associated with BBS (rs773862084, rs567573386, and rs199910690). In total, 716 patients were included in the case group, and they were compared to a control group of 2,864 patients who lacked BBS alleles. The control group was selected through gender and age matching at a ratio of 1:4. The association between BBS-related loci and comorbidity was assessed using logistic regression models. Results: We found that BBS heterozygous carriers exhibited a significant association with elevated BMI levels, especially the variant rs199910690 in MKS1 (p=0.0037). The prevalence of comorbidities in the carriers' group was not higher than that in the non-carriers' group. Besides, the average values of the biochemistry data showed no significant differences, except for creatinine level. Furthermore, we conducted a BMI-based analysis to identify specific risk factors for chronic kidney disease (CKD). Our findings revealed that individuals carrying the CA/AA genotype of the BBS2 rs773862084 variant or the CT/TT genotype of the MKS1 rs199910690 variant showed a reduced risk of developing CKD, irrespective of their BMI levels. When stratified by BMI level, obese males with the MKS1 rs199910690 variant and obese females with the BBS2 rs773862084 variant exhibited a negative association with CKD development. Conclusion: We found that aside from the association with overweight and obesity, heterozygous BBS mutations did not appear to increase the predisposition of individuals to comorbidities and metabolic diseases. To gain a more comprehensive understanding of the genetic susceptibility associated with Bardet-Biedl Syndrome (BBS), further research is warranted

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers

Li,

Chen,

Yang

et al. 2024

Int. J. Med. Sci.

View full text Add to dashboard Cite

show abstract

“…Characterized by a high degree of genetic and clinical heterogeneity, there is no cure for BBS, and these patients are treated symptomatically with multidisciplinary approaches ( Caba et al, 2022 ). Molecular genetic testing is recommended to help focus on particular pathogenic genes and provide the possibility of gene therapy.…”

Section: Discussionmentioning

confidence: 99%

“…Diagnosis is based on the presence of four major symptoms (retinal degeneration, postaxial polydactyly, truncal obesity, cognitive impairment, hypogonadism, and renal anomalies) or three major symptoms plus two minor symptoms (speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly/syndactyly, ataxia/poor coordination, anosmia/hyposmia) ( Caba et al, 2022 ). Over 26 gene loci have now been attributed to BBS symptoms, the functions of which can be subtyped into three categories: the BBSome, BBSome assembly chaperonins, and other IFT and ciliary proteins ( Caba et al, 2022 ). Mutations in any BBSome subunit can cause BBS, suggesting that every subunit of the BBSome is essential for complete BBSome function.…”

Section: Physiological and Pathological Roles Of The Bbsome In Diseasesmentioning

confidence: 99%

Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

Tian

Zhao

Zhou

2023

eLife

View full text Add to dashboard Cite

The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome. Over the past few years, there has been significant progress in elucidating the molecular organization and functions of the BBSome complex. An improved understanding of BBSome-mediated biological events and molecular mechanisms is expected to help advance the development of diagnostic and therapeutic approaches for BBSome-related diseases. Here, we review the current literature on the structural assembly, transport regulation, and molecular functions of the BBSome, emphasizing its roles in cilium-related processes. We also provide perspectives on the pathological role of the BBSome in ciliopathies as well as how these can be exploited for therapeutic benefit.

show abstract

“…ARPKD: consider prenatally every 2-3 weeks for serial assessment of the renal size and amniotic fluid volume, confirm diagnosis postnatally, and perform abdominal ultrasound at the age of 5 years [114]. BBS: consider yearly screening for renal tract malformations (e.g., dysplasia, agenesis, cysts, scarring) [110]. IRC: consider at least one follow-up US to rule out the development of another CyKD [28].…”

Section: Follow-up Renal Ultrasoundmentioning

confidence: 99%

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Grlić,

Gregurović,

Martinić

et al. 2024

Children

View full text Add to dashboard Cite

Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by renal cysts. Despite extensive research in this field, there are no reliable genetics or other biomarkers to estimate the phenotypic consequences. Therefore, CyKD in children heavily relies on clinical and diagnostic testing to predict the long-term outcomes. Aim: A retrospective study aimed to provide a concise overview of this condition and analyze real-life data from a single-center pediatric CyKD cohort followed during a 12-year period. Methods and Materials: Medical records were reviewed for extensive clinical, laboratory, and radiological data, treatment approaches, and long-term outcomes. Results: During the study period, 112 patients received a diagnosis of pediatric CyKD. Male patients were more involved than female (1:0.93). Fifty-six patients had a multicystic dysplastic kidney; twenty-one of them had an autosomal dominant disorder; fifteen had an isolated renal cyst; ten had been diagnosed with autosomal recessive polycystic kidney disease; three had the tuberous sclerosis complex; two patients each had Bardet–Biedl, Joubert syndrome, and nephronophthisis; and one had been diagnosed with the trisomy 13 condition. Genetic testing was performed in 17.9% of the patients, revealing disease-causing mutations in three-quarters (75.0%) of the tested patients. The most commonly presenting symptoms were abdominal distension (21.4%), abdominal pain (15.2%), and oligohydramnios (12.5%). Recurrent urinary tract infections (UTI) were documented in one-quarter of the patients, while 20.5% of them developed hypertension during the long-term follow-up. Antibiotic prophylaxis and antihypertensive treatment were the most employed therapeutic modalities. Seventeen patients progressed to chronic kidney disease (CKD), with thirteen of them eventually reaching end-stage renal disease (ESRD). The time from the initial detection of cysts on an ultrasound (US) to the onset of CKD across the entire cohort was 59.0 (7.0–31124.0) months, whereas the duration from the detection of cysts on an US to the onset of ESRD across the whole cohort was 127.0 (33.0–141.0) months. The median follow-up duration in the cohort was 3.0 (1.0–7.0) years. The patients who progressed to ESRD had clinical symptoms at the time of initial clinical presentation. Conclusion: This study is the first large cohort of patients reported from Croatia. The most common CyKD was the multicystic dysplastic kidney disease. The most common clinical presentation was abdominal distention, abdominal pain, and oliguria. The most common long-term complications were recurrent UTIs, hypertension, CKD, and ESRD.

show abstract

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do

Cited by 8 publications

References 85 publications

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers

Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond

Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review

Contact Info

Product

Resources

About