Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Kute, Vivek B.; Vanikar, Aruna V; Gumber, Manoj R.; Patel, Himanshu V.; Shah, PR; Patil, Sachin; Trivedi, Hargovind L

doi:10.1007/s12291-012-0275-y

Ind J Clin Biochem

2012

DOI: 10.1007/s12291-012-0275-y

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Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Vivek B. Kute

Aruna V Vanikar

Manoj R. Gumber

et al.

Abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regul… Show more

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“…So far, only 3 cases of BBS has been reported to have chronic kidney disease (CKD) from India, which initially goes undetected. 3 Our case report was also similar in terms of deranged renal function tests and sonographically supported evidence of grade III chronic renal parenchymal disease with loss of cortico-medullary differentiation. Bilateral genu valgum in the child was attributed to the nutritional cause of Vitamin deficiency more than a renal cause which is chronic kidney disease (CKD) due to highly elevated alkaline phosphatase levels (>2000 IU/L).…”

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Clinical ProblemAn 8-year-old girl, born of 2 nd degree consanguineous marriage presented with bilateral lower limb deformity and not gaining height. Other problems included poor scholastic performance, diminished vision in both eyes especially at night and excessive weight gain from 2 years of age. She was operated for left sided complete cleft lip and palate at 3 years of age (Figure 1). She also had delayed developmental milestones, with commencement of walking and speech at 2 and 5 years of age, respectively. On examination, bilateral genu valgum (inter-malleolar distance was 20 cm) and post-axial hexadactyly and brachydactyly of all four limbs were seen (Figure 2). Her height was below 3 rd percentile and her weight was at 25 th percentile according to the Indian Academy of Pediatrics (IAP) charts, with a body mass index (BMI) above 97 th percentile according to the World Health Organization (WHO) criteria. She had a waist to hip ratio of 0.89, fitting into central obesity. She also had Stage 2 hypertension [blood pressure (BP) 132/90 mm of Hg]. Ophthalmic examination revealed myopic astigmatism along with retinitis pigmentosa. Among the laboratory investigations (Table 1), she had severe Vitamin D deficiency, elevated alkaline phosphatase levels, deranged renal function tests and arterial blood gas analysis suggestive of metabolic acidosis. Bilateral lower limb scanogram (Figure 3) showed classical signs of rickets such as splaying, fraying and cupping at the metaphysis along with bilateral genu valgum. Ultrasonography of both kidneys showed raised cortical echogenicity. Cortico-medullary differentiation was lost. There was no hydronephrosis or calculus. These changes were suggestive of grade III chronic renal parenchymal disease. Her sexual development was consistent with her pre-pubertal stage. What is the diagnosis?Discussion: Bardet-Biedl Syndrome (BBS). BBS is a rare ciliopathic autosomal recessive genetic disorder with multi-

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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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Bardet–Biedl Syndrome: A Rare Cause of Chronic Kidney Disease

Cited by 2 publications

References 13 publications

Knocking Down the Diagnosis in Knock Knees

Knocking Down the Diagnosis in Knock Knees

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

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