A 50-year-old woman with no allergies underwent surgery for polydactyly at two years of age.
Pigmentary retinitis diagnosed more than 25 years ago.
Chronic obstructive pulmonary disease type chronic bronchitis, active smoker of 20 packs/year.
She denies blindness in first- and second-degree relatives.
Physical location: weight: 85.9 kg, height: 1.65 m, body mass index: 31.55 kg/m2.
Blood analysis showed no anemia, no dyslipidemia or increased creatinine.
Genetic study in the Fundación Jiménez Díaz de Madrid in May 2010: carrier of a mutation in the BBS1 gene that is responsible for the disease.
Abdominal ultrasound : fatty liver, non-valuable pancreas, homogeneous spleen.
Right kidney with smooth lobulations and sinus cyst of sinus origin, left kidney with rounded prominence, probable lobulation, not being able to rule out renal tumor, so they recommend magnetic resonance imaging
1.
Bardet-Biedl syndrome as cyliopathy
The cilios are present in almost all the cells of the mentally ill.
They are involved in embryonic development, polarity and homeostasis, sensory functions (eye, sight, smell) and transporters, and cell division.
Its staging and maintenance depends on intragel transport that takes particles from the basal body along the microtubular structure to the tip.
In 2003, Ansley et al. proposed that the molecular pathogenesis of BBS was due to ciliary involvement.
proteins encoded by altered genes in BBS are located in centrosomes and basal body.
Glomerular and tubular cells produce a single cilio of structure 9 + 0 that is projected to the lumen of the tubule and functions as a mechano or chemoreceptor.
Other ciliopathy include Kartags syndrome, polycystic disease AD and nephronoptysis.
