Symptoma

Bardet-Biedl Syndrome

BBS

Primary renal disease as a consequence of BBS appears to present in early childhood. The evidence presented here could have a direct clinical implication for patients with BBS. [jasn.asnjournals.org]

Using the same background illumination, the bright flash was presented at 30 Hz and then sweeps were averaged. [karger.com]

Machinery murmur from patent ductus arteriosus may be present. S3 may be heard. [wikidoc.org]

Postaxial polydactyly was present in all four limbs in 23 patients (21%). In nine patients (8%) the extra digit was only present on the hands and in 23 (21%) only on the feet. [jmg.bmj.com]

Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability renal structural anomalies polydactyly : often post-axial 4 obesity: often truncal hypogonadism: in males History [radiopaedia.org]

  • Muscle Weakness

    BBS is distinguished from the much rarer Laurence-Moon syndrome, in which retinal pigmentary degeneration, mental retardation, and hypogonadism occur in conjunction with progressive spastic paraparesis and distal muscle weakness, but without polydactyly [jmg.bmj.com]

  • Absent Kidney

    Developmental abnormalities included horseshoe, ectopic, duplex, and absent kidneys. Where several abnormalities were present, the predominant structural defect is reported. [jasn.asnjournals.org]

  • Vertigo

    No patient experienced true rotatory vertigo or dizziness during the vestibular test. Spontaneous nystagmus occurred in one patient. Positional nystagmus was observed in three patients (50%). [bmcmedgenet.biomedcentral.com]

  • Hyperactivity

    Some children are hyperactive with attention deficit, while others are docile with unwavering attention toward subjects that interest them. Adult patients are often disinhibited and appear unable to recognise social cues. [jmg.bmj.com]

  • Hypercholesterolemia

    Hypercholesterolemia (high cholesterol) and diabetes mellitus may be treated with the appropriate medications and changes to diet. Early intervention, special education provision and speech and language therapy can help with learning. [contact.org.uk]

    His medical history was notable for hypercholesterolemia, the surgical removal of a sixth toe bilaterally and the repositioning of an undescended testicle. There was no pertinent family or ocular history. [karger.com]

    Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). [ghr.nlm.nih.gov]

Treatments for the Two Conditions Treatment of BBS is focused on treating the symptoms of the disorder, such as vision correction or kidney transplants. [verywellhealth.com]

This research will provide clues to develop future treatments. [bardetbiedl.org]

Official Title: Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. [clinicaltrials.gov]

Therapeutic Considerations There is no treatment to prevent deterioration of vision. Surgical excision of extra digits can be performed. [aao.org]

Treatment aims to reduce the symptoms experienced by a person with BBS. Regular eye check-ups by an ophthalmologist will highlight any existing problems. Visual aids and educational programmes can assist with visual difficulties. [contact.org.uk]

Prognosis For those with Laurence-Moon syndrome, life expectancy is usually shorter than other people. The most common cause of death is linked to renal or kidney issues. [verywellhealth.com]

Prognosis Prognosis should be assumed to be excellent until proven otherwise. However, in its most severe forms, panhypopituitarism and severe airway malformations can be lethal; imperforate anus may also be lethal if not recognized. [orpha.net]

This finding, which is unusual in BBS, negatively affected prognosis and caused the patient’s death at the age of 18 years. [bmcmedgenet.biomedcentral.com]

Generally, the existence of modifier alleles imposes a great challenge in establishing clear-cut genotype-phenotype correlations and complicates an accurate prognosis for affected individuals. [nature.com]

These patients have a poor clinical prognosis; 11 of 33 have died (age range, 14-48 years). There was mild to severe elevation in liver transaminase levels as early as age 4 years in 89 (92%) of 97 patients tested. [jamanetwork.com]

Etiology PHS is due to mutations of the GLI3 gene (7p13) that encodes a transcription factor activated by the sonic hedgehog pathway. Mutations lead to alterations in gene expression during development. [orpha.net]

Consanguinity and eye diseases with a potential genetic etiology. Data from a prevalence study in Andhra Pradesh, India. Ophthalmic Epidemiol 13, 7–13 (2006). Khan, S. et al. [nature.com]

During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. [academic.oup.com]

"Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. A. 132 (4): 352–60. PMID 15637713. [wikidoc.org]

Epidemiology Prevalence in Newfoundland is about 10 times than in Switzerland (1 in 160,000) and is similar to prevalence among the Bedouins of Kuwait (1 in 13,500). Clinical Findings BBS is a ciliopathy with protean manifestations. [aao.org]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132A(4):352–360. doi:10.1002/ajmg.a.30406 Forsythe E, Kenny J, Bacchelli C, Beales PL. [verywellhealth.com]

Summary Epidemiology Approximately 100 patients have been reported to date. [orpha.net]

CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration). A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009;150:604–12. 18. Rundle FW, McCabe BF. [bmcmedgenet.biomedcentral.com]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620–627. doi:10.4103/0301-4738.194328 Shrestha S, Chaudhary N. A rare case of obesity. Can it be Bardet-Biedl Syndrome?. [verywellhealth.com]

Pathophysiology Even though the detailed biochemical mechanism that leads to BBS is unclear, the syndrome is thought to result largely from a defect in basal body of ciliated cells. [wikidoc.org]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]

Goldstein JFialkow P The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore) 1973;5253- 71PubMedGoogle ScholarCrossref [jamanetwork.com]

Surgery to remove extra digits prevents difficulties walking and balancing and poor fitting of footwear. [contact.org.uk]

Therapeutic Considerations There is no treatment to prevent deterioration of vision. Surgical excision of extra digits can be performed. [aao.org]

Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]

These molecular insights are helpful in genetic counseling of the affected families to prevent disease inheritance in the next generations. Additional Information How to cite this article : Maria, M. et al. [nature.com]

Paisey RBCarey CMParkinson MJParkinson CCole MD Alström syndrome: the case for secondary prevention [abstract]. Diabetes Res Clin Pract 2000;50 ((suppl 1)) S202Google ScholarCrossref 5. [jamanetwork.com]