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Year : 2007  |  Volume : 17  |  Issue : 1  |  Page : 10--13

Bardet-Biedl syndrome with end-stage kidney disease: A case report and review of literature

M Rathi1, A Ganguli1, SK Singh2, HS Kohli1, KL Gupta1, V Sakhuja1, V Jha1,  
1 Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India
2 Department of Urology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India

Correspondence Address:
V Jha
Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012


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 the first case of BBS with documented end-stage kidney disease from India. The diagnosis had been missed until the patient presented at our hospital. The relevant literature has also been reviewed.

How to cite this article:
Rathi M, Ganguli A, Singh S K, Kohli H S, Gupta K L, Sakhuja V, Jha V. Bardet-Biedl syndrome with end-stage kidney disease: A case report and review of literature.Indian J Nephrol 2007;17:10-13

How to cite this URL:
Rathi M, Ganguli A, Singh S K, Kohli H S, Gupta K L, Sakhuja V, Jha V. Bardet-Biedl syndrome with end-stage kidney disease: A case report and review of literature. Indian J Nephrol [serial online] 2007 [cited 2020 Jun 2 ];17:10-13
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Full Text


Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterized by rod-cone dystrophy (retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal involvement. [1] BBS occurs throughout the world, with prevalence rates of 1:140000 to 1:160000 in North America and Europe, respectively. [2] Only case reports have been described from India. We report the first case from India of BBS with documented end-stage kidney disease (ESKD) requiring renal replacement therapy.

 Case Report

A 24-year-old single female presented for management of ESKD. She was born of nonconsanguineous parents, and had six digits on all four limbs. Her initial motor and mental development milestones had been normal. Her parents had noticed progressive decline in vision since the age of 3 years, which deteriorated to complete blindness by the age of 16. Her hearing started to deteriorate from the age of 6 years. About 5 years back, she had fallen down and fractured her left tibia; the resulting nonunion had made her bed-bound. She had attained menarche at the age of 14, but developed secondary amenorrhea 5 years later. She had undergone surgery for removal of the extra digit from her left hand in 2000.

In 2003, she started experiencing weakness and anorexia and had one episode of a generalized tonic-clonic seizure. At that time she was investigated at a local health facility and was found to have hypertension and renal impairment (serum creatinine 3.5 mg/dl). CT of the head and the EEG were unremarkable. She was started on antihypertensives and phosphate binders. She did not seek medical attention again until December 2005, by which time, the loss of appetite was almost complete and nausea and vomiting had appeared. The serum creatinine and hemoglobin were found to be 13.5 mg/dl and 8.5 gm/dl, respectively. She had been put on maintenance hemodialysis and was later referred to our institute for further management.

On examination, she was found to be obese (body mass index: 31.5 kg/m 2 , waist-hip ratio: 1.05); she had pallor, pedal edema, and postaxial polydactyly of upper and lower limbs. The blood pressure was 118/70 mm of Hg (while on two antihypertensive drugs). Cardiovascular, respiratory, and abdominal examinations were normal. She had bilateral hearing loss (bone conduction > air conduction), vision was restricted to perception of light in both eyes, and bilateral gaze-evoked nystagmus was present. Fundus examination revealed pigmentary retinopathy. There was bilateral conductive hearing loss on audiometry and a low-amplitude wave pattern on electroretinogram. Investigations revealed hemoglobin of 8.8 gm/dl, urea 237 mg/dl, creatinine 11.1 mg/dl, calcium 7.8 mg/dl, inorganic phosphate 3.2 mg/dl, and albumin 2.7 gm/l. Urine examination revealed 1+ albuminuria; microscopy was unremarkable. Ultrasonography revealed bilateral smooth shrunken kidneys.

A diagnosis of BBS with ESKD was made. Treatment options were discussed with the family, who finally opted for chronic peritoneal dialysis. A Tenckhoff catheter was inserted and CAPD was initiated uneventfully. She was initiated on four 2-l exchanges/day, but as ultrafiltration was poor, she was converted to daytime ambulatory peritoneal dialysis. Currently, her ultrafiltration volume and urine output are approximately 1 l and 600 ml/day, respectively.


Our patient presented with the classical phenotype of BBS. Even though the patient had been seen by several specialists in different facilities, the diagnosis had been missed, possibly because of the rarity of the condition. It was the development of renal failure that brought the patient to our institute, where the diagnosis was made.

Laurence and Moon described four cases of retinitis pigmentosa accompanied by obesity, hypogonadism, and spastic paraplegia in 1866. [3] Bardet [4] and Biedl, [5] separately described patients with obesity, retinitis pigmentosa, polydactyly, mental retardation, and hypogonadism. The combination of these symptoms was known variously as Laurence-Moon Bardet-Biedl syndrome, Laurence-Moon-Biedl syndrome and Laurence-Biedl syndrome. In 1970, Ammann recognized the presence of two distinct autosomal recessive disorders, [6] which he termed Laurence-Moon syndrome and Bardet-Biedl syndrome [Table 1].

The BBS phenotype is seen in individuals with mutations in 11 different genes [7],[8] [Table 2]. BBS1 accounts for ~ 25-30% of cases. The exact pathogenesis of BBS is unknown. It has been recently recognized that proteins coded for by the BBS4, BBS6, BBS8, and BBS10 genes are expressed in the basal body of cilia, [7],[9],[10],[11] and BBS is now regarded as one of the 'ciliopathies.' The gene products are probably involved in the signaling pathway in the cilia; abnormalities interfere with normal development, resulting in the diverse pathological effects of the syndrome. [12],[13]

The cardinal manifestations of BBS are limb abnormalities, most commonly postaxial polydactyly (70-90%), pigmentary retinopathy (90-100%), central obesity (70-95%), and renal involvement (25-100%). [14] Less common features include male hypogonadism, mental retardation, behavioral abnormalities, hearing loss, speech disturbances, hypertension, type 2 diabetes mellitus, congenital heart disease, and cardiomyopathy. Rare associations include hypothyroidism, Hirschsprung's disease, epilepsy, genital anomalies, anal stenosis, and abnormal dentition. On the basis of a review of 109 cases, Beales et al . [15] suggested the diagnostic criteria summarized in [Table 3].

The cause of the conductive hearing loss was not clear in our patient. Both conductive and sensorineural deafness have been described in BBS. [15],[16] Conductive deafness is almost always associated with chronic otitis media, which was ruled out in our patient. The advanced renal failure in this patient presumably was due to chronic interstitial nephritis, as suggested the by absence of edema and proteinuria, and the presence of smooth contracted kidneys. The frequency of renal involvement in BBS varies with the care with which it is looked for. A questionnaire-based evaluation [15] reported anatomic anomalies, renal insufficiency, and ESKD in 46, 9, and 4% of cases, respectively. On the other hand, careful evaluation reveals the presence of structural or functional abnormalities almost universally. [17] Such abnormalities include renal cysts, fetal lobulations, scarring, dysplasia, unilateral agenesis, ectopia, vesico-ureteric reflux, and calyceal clubbing or blunting. Defects in tubular function result in nephrogenic diabetes insipidus and type I renal tubular acidosis. [18],[19] Renal insufficiency is noted in approximately 5-25%, with progression to ESKD in 4-10%. Renal failure is the commonest cause of death in BBS. [15],[16] Renal histology has revealed chronic interstitial nephritis, mesangial proliferative glomerulopathy, and ultrastructural changes in the glomerular basement membrane. [20],[21],[22]

So far, a total of eight cases have been reported from India, but none with ESKD. Thus, our patient is the first such case to be reported from our country. Somwanshi et al . has reported four cases (3 males, 1 female) with polydactyly, hypogonadism, retinitis pigmentosa, obesity, and mental retardation; however, renal functions were normal in all of these cases. [23] Pal et al . has described an 18-year-old female with pigmentary retinopathy, hypogenitalism, dwarfism, polydactyly, obesity, and mental retardation, but without renal involvement. [24] Cysts in the left kidney were detected in a 30-year-old patient. The renal functions, however, were normal. [25] Gupta et al . [26] reported a 20-year-old female with renal insufficiency and multiple fractures, possibly related to renal osteodystrophy; her serum creatinine was 3.0 mg/dl and ultrasonography revealed bilateral hypoplastic kidneys.

Management of BBS is supportive and includes training and rehabilitation for blind and mentally retarded patients, hearing aids for deafness, and diet and exercise for obesity. Organizations such as the Foundation Fighting Blindness and the Laurence-Moon-Bardet-Biedl Society provide emotional and social support and help in all-round development. Early and regular screening for hypertension, diabetes, and renal involvement is required. The management of renal failure does not differ from that due to any other cause. All three modalities of long-term renal replacement therapy, i.e., hemodialysis, chronic peritoneal dialysis, and renal transplantation [27] can be offered to these individuals.

To conclude, we report the first case of BBS with ESKD from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly, and central obesity. Renal involvement is common and renal failure is most common cause of death in BBS.


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