Report of four cases of Bardet-Biedl syndrome

Santos, Paulo Roberto; Monteiro, Diego Levi Silveira; Paula, Paulo Henrique Alexandre de; Neto, Vicente Lopes Monte

doi:10.5935/0101-2800.20140037

Cited by 3 publications

(5 citation statements)

References 8 publications

(12 reference statements)

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“…Although the ocular changes are impossible to detect in early childhood, a progressing retinal dystrophy is one of the most frequently occurring symptoms in BBS (69-100%) [16,17]. Most often it is a rod-cone dystrophy, where central vision is impaired at first, followed by peripheral vision and night vision impairment.…”

Section: Discussionmentioning

confidence: 99%

“…These disorders are often inherited in an autosomal recessive manner. Some of them, however, may be lethal, like in the case of Meckel-Gruber syndrome [17]. Therefore, BBS should also be included in the differential diagnostics of the syndromes characterized by the presence of echogenic kidneys, without familial history.…”

Section: Discussionmentioning

confidence: 99%

“…Measuring the BBS-patients' field of vision is difficult due to mental retardation, age, and frequent lack of cooperation. Electroretinography is a procedure which allows an early retinopathy recognition when changes in the retina are minimal and still barely perceptible [1,17]. Even though there is no causal treatment for BBS, an early diagnosis is important for the necessity of designing a diet, monitoring of glycaemic levels, arterial blood pressure and kidney and liver parameters as well as ophthalmological examination and psychological help to alleviate the symptoms and improve child's development [2].…”

Section: Discussionmentioning

confidence: 99%

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Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Pasińska¹,

Dudarewicz²

2015

J Mol Genet Med

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Bardet Biedl Syndrome (BBS) is a rare, genetically determined syndrome which can result from a mutation in one of 19 known genes (often called BBS complex), which play a vital role in building structures and cell functions of cilia. Phenotypic symptoms of the syndrome usually progress in the first decade of life, however, they are characterized by a high diversity which makes their diagnosis difficult, especially in the early stage of life. The diagnosis is most frequently based on clinical symptoms and established in late childhood or adult life. BBS is a disorder of the non-motile cilia, which play the role of antennae receiving and transmitting sensory signals to photoreceptors of the retina, hearing cells or olfactory cells. Clinical symptoms of the disorders affecting these structures are: retinal pigmentary degeneration, polydactyly, learning difficulties, and formation of kidney, liver and pancreas cysts. The inheritance mode of BBS is in 80% autosomal recessive, which is connected with both parents carrying a mutated allele, and usually only giving birth to a symptomatic child defines a family as being at genetic risk, whith 25% risk of having another child with the disease and 50% of having offspring that are asymptomatic carriers For families with an identified mutation there exists a possibility of conducting prenatal or preimplementation genetic diagnosis in subsequent pregnancies The article presents a case of a patient in whom prenatal ultrasonography and subsequent clinical trials in post-natal period resulted in a Bardet-Biedl syndrome diagnosis, which was later confirmed through molecular tests.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Pasińska¹,

Dudarewicz²

2015

J Mol Genet Med

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“…They mentioned that the prevalence of hypertension and diabetes mellitus in BBS patients may lead to misdiagnosis of the primary renal disease among end-stage renal disease patients with BBS. 19 Along with the fact that the cause of hypertension is not clear; it may be directly related to the mutant gene effect, vascular anomalies, renal parenchymal disease or obesity. In our study, 21.7% of the patients were diagnosed with hypertension and none of the patients had diabetes mellitus.…”

Section: Discussionmentioning

confidence: 99%

Renal features of Bardet Biedl syndrome: A single center experience

Atmış¹,

Karabay-Bayazit²,

Melek³

et al. 2019

Turk J Pediatr

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Bardet Biedl syndrome (BBS), is a multisystemic disorder which is described as a ciliopathy. BBS is a rare autosomal recessive disorder and 21 different BBS genes have been defined to date. BBS is characterized with dysmorphic extremities, retinitis pigmentosa, obesity, hypogenitalism, intellectual disabilility and renal structural abnormalities. Renal symptoms in patients with BBS, are nonspecific and often undetected until end-stage renal disease. Here, we were reported 23 children with BBS (12 females, 11 males) with renal abnormalities from a single center and defined their features. Age at diagnosis were very variable (2 days-16 years). Median age at diagnosis was 84 months. Mean follow-up period was 42 months. All 23 children had urinary tract abnormalities on renal ultrasonography. These abnormalities were polycysts (34.8%), hyperechogenic kidneys (34.8%), fetal lobulation (21.7%), hypoplasia on at least one kidney (21.7%) and hydronephrosis in at least one kidney (17.4%). Vesicoureteral reflux and neurogenic bladder detected 11.1% and 22.2% of patients who recieved a voiding cystourethrogram, respectively. Proteinuria was found in 39 % of patients. Hypertension was defined in 21.7% of patients. Six of 23 children (26%) in our cohort had proven mutations in BBS genes. Five of them (83.3%) had homozygous mutations in BBS10 gene and one of them had homozygous mutation in BBS2 gene. All of 23 children had retinitis pigmentosa, twenty two of them (95.6%) had learning disabilities/cognitive impairment and seventeen of them (82.6%) had obesity. Renal involvement is now accepted as a cardinal feature and the most important factor causing mortality in BBS.

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“…Both structural and functional renal anomalies have been described with the syndrome . BBS patients requiring renal transplantation at ages ranging from 6 to 58 years have been described in case reports . Renal transplantation was unremarkable in these patients but many suffered from long‐term complications related to glucocorticoid immunosuppression contributing to morbid obesity postoperatively .…”

Section: Discussionmentioning

confidence: 99%

Anesthetic considerations for patients with Bardet–Biedl syndrome: a case series and review of the literature

Smith

Barbara

Hyder

et al. 2016

Pediatric Anesthesia

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We identified 12 patients with BBS undergoing 40 anesthetics at our institution. The study identified a high risk for difficult airway with need for advanced airway techniques (67% of patient's ≥ 18 years of age required either awake fiberoptic or video laryngoscopy techniques), cardiac abnormalities, renal impairment, morbid obesity, and intellectual disability as the main syndrome manifestations of interest to the anesthesiologist. No patient had perioperative complications directly related to BBS; however, each underwent thorough perioperative evaluation with emphasis on the systemic comorbidities associated with the syndrome. This report illustrates that patients with BBS can safely undergo anesthesia, but a detailed and often multidisciplinary preoperative evaluation is prudent.

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Report of four cases of Bardet-Biedl syndrome

Cited by 3 publications

References 8 publications

Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Prenatal and Postnatal Diagnostics of a Child with Bardet-Biedl Syndrome: Case Study

Renal features of Bardet Biedl syndrome: A single center experience

Anesthetic considerations for patients with Bardet–Biedl syndrome: a case series and review of the literature

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