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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2009  |  Volume : 20  |  Issue : 3  |  Page : 454-457
Bardet-biedl syndrome in a child with chronic kidney disease


1 Department of Nephrology, Abuzar Pediatric Hospital, Jundishapour University of Medical Sciences, Ahvaz, Ahvaz, Iran
2 Medical Student, Faculty of Medicine, Jundishapour University of Medical Sciences, Ahvaz, Iran

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   Abstract 

A 4-year old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. His parents added complaints of polyuria, polydipsia, enuresis, shortness of stature, and inappropriate obesity. Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Urine culture was positive for Pseudomonas aeruginosa, and abdominal ultrasound revealed bilateral small kidneys. The patient's history included mild to moderate mental retardation and postaxial polydactyly of both lower limbs amputated two years ago. The combination of mental retar­dation, obesity, postaxial polydactyly, and bilateral renal hypoplasia were compatible with the diagnosis Bardet-Biedl syndrome (BBS). The combination of PUV and BBS is a rare condition that caused this early onset of renal failure and inappropriate obesity guided us to the diagnosis.

Keywords: Bardet-Biedl syndrome, Dysplastic kidneys, Postaxial polydactyly, Posterior urethral valve, Obesity

How to cite this article:
Valavi E, Alemzadeh Ansari MJ, Ahmadzadeh A. Bardet-biedl syndrome in a child with chronic kidney disease. Saudi J Kidney Dis Transpl 2009;20:454-7

How to cite this URL:
Valavi E, Alemzadeh Ansari MJ, Ahmadzadeh A. Bardet-biedl syndrome in a child with chronic kidney disease. Saudi J Kidney Dis Transpl [serial online] 2009 [cited 2019 Oct 19];20:454-7. Available from: http://www.sjkdt.org/text.asp?2009/20/3/454/50778

   Introduction Top


Bardet-Biedl syndrome (BBS) is a rare disorder characterized by mental retardation, obesity, re­tinitis pigmentosa, postaxial polydactyl, short stature, developmental delay, diabetes mellitus, endocrinopathies, speech deficits, hepatic fibro­sis, hearing loss, and renal structural abnorma­lities. [1] Posterior urethral valves are obstructing membranous folds within the lumen of prostatic urethra. They are the most frequent cause of obs­tructive uropathy in boys. [2] We report a case in which we found a rare association of BBS and PUV.


   Case Report Top


A 4-year-old boy was referred for evaluation of renal failure, posterior urethral valve (PUV) and urinary tract infection. He is the first offspring of first degree cousins. His parents added the com­plaint of polyuria, polydipsia, enuresis, short sta­ture (89 cm, < 3 percentile), and inappropriate obesity (body mass index: 22.7 kg/m 2 , > 95 percentile), [Figure 1].

Serum blood urea nitrogen and creatinine levels were 45 and 3.5 mg/dL, respectively. Glomerular filtration rate was very low (20.8 mL/min). Other blood chemistries were within normal limits.

A chest X-ray showed decreased bone density especially in proximal homeruns bone, and a wrist X-ray revealed that bone age was compa­tible with two years.

Urinalysis revealed pyuria and microscopic he­maturia, and urine culture was positive for Pseu­domonas aeruginosa.

An abdominal ultrasound revealed bilateral small kidneys (right 59 × 25 mm, and left 54 × 24 mm) with decreased parenchymal thickness, decreased corticomedullary differentiation, and right hydronephrosis.

A voiding cystouretreogram revealed grade IV vesicoureteral reflux on the right urinary tract and grade II on left, trabeculated bladder wall, and mild to moderate dilatation of prostatic u­rethra, which all suggested diagnosis of a PUV, [Figure 2] and [Figure 3]. Diagnosis of PUV was con­firmed with a urethroscopy and then transure­thral resection of the valve's leaflets was per­formed.

Because of inappropriate obesity we reviewed the patient's medical history, which revealed mild to moderate mental retardation and posta­xial polydactyly of both lower limbs which were amputated two years ago. However, ophthalmo­logic evaluation including fundoscopy was un­remarkable.

The combination of mental retardation, obe­sity, postaxial polydactyly, and bilateral renal hypoplasia was compatible with the diagnosis of Bardet-Biedl syndrome (BBS) in addition to the PUV.


   Discussion Top


BBS was described by Bardet and Biedl in the 1920s. [3],[4] The prevalence of BBS, generally con­sidered a rare disorder, is (1:160000) in Europe. However, its prevalence is markedly increased in highly consanguineous Arab-bedouin communi­ties in the Middle East (1:13500), and in New­foundland, Canada. [5]

The average age at diagnosis is nine years, when visual problems first become apparent, but diagnosis after the age of 50 has also been re­ported. [6] Postaxial polydactyly is present in 69% of patients at birth, but obesity begins to deve­lop around two to three years, and retinal de- generation becomes apparent at a mean age of 8.5 years. [7]

Ocular abnormalities include rod-cone dystro­phy (at the end of the second decade), strabis­mus, retinitis pigmentosa, and cataracts. [8],[9]

Obesity in BBS is encountered in72-96% of the cases. It usually starts in childhood and the severity increases with age. The majority of cases exhibits symptoms within the first year of life. Distribution of adipose tissue is widespread in childhood but in adulthood, become most pro­minent in trunk and proximal limbs. The cause of obesity in these patients is unknown, but ab­normalities of both the pituitary and hypotha­lamus glands have been postulated. [10]

Postaxial polydactyly is a major feature BBS. Moreover, other limb deformities have been re­ported at varying frequencies, brachydactyly of both hands and feet, partial syndactyly, fifth finger clinodactyly, and a prominent gap bet­ween the first and second toes. [7],[10]

Mild to moderate mental retardation is an addi­tional feature of BBS. The frequency of mental retardation and its severity are variable. [11] Appro­ximately 90% of males with BBS suffer from hypogonadism, while complex genitourinary mal­formations may occur in females. [12]

Renal abnormalities have been described in up to 100% of BBS patients, and renal failure is an important cause of morbidity and early mortality. Dysplasia, calyceal and lower urinary tract mal­formations, cystic tubular disease, and defects of tubular concentrating ability have been re­ported. In some cases, this syndrome may result in renal cancers, especially renal cell carci­noma. [10]

Prenatal presentation of BBS with polydactyly and kidney anomalies may resemble that of Meckel syndrome or "Meckel-like" syndrome in the absence of encephalocele. [12]

BBS increases the risk for hypertension, dia­betes mellitus, and congenital heart disease. [8] Generally, the prognosis of patients with BBS is poor. Their survival and quality of life depend on the severity of clinical features, as well as on the quality of the medical care they receive. [14]

Chronic renal failure is rare in children. About one child per year per million population deve­lops end stage renal disease. Anatomical abnor­malities such as obstructive uropathy secondary to PUV, renal dysplasia, reflux nephropathy and cystic kidney disease, account for approximately 35 percent of the cases of chronic renal failure in children. Growth retardation and renal osteo­dystrophy are the most important complications in children with chronic kidney disease, and most of the patients have failure to thrive in mo­derate to severe renal failure. [2],[15],[16]

In our case it seems that the combination of PUV and BBS (a rare association), has caused this early onset of chronic renal failure and an increased body mass index helped us in the diagnosis of this syndrome.

 
   References Top

1.Palmer JS. Genitourinary manifestations in boys and girls associated with genetic diseases. JHMG 2006;3:71-9.  Back to cited text no. 1    
2.Parkhouse HF, Barratt TM, Dillon MJ, Duffy PG. Long-term outcome for boys with posterior urethral valves. Br J Urol 1988;62:59-62.  Back to cited text no. 2    
3.Bardet G. On congenital obesity syndrome with polydactyly and retinitis pigmentosa. 1920; University of Paris, Thesis no. 470.  Back to cited text no. 3    
4.Biedl A. A pair of siblings with adiposa-genital dystrophy. Dtsch Med Wochenschr 1922;48: 1630.  Back to cited text no. 4    
5.Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Genetic hetero­geneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. Genomics 1999;55:2-9.  Back to cited text no. 5    
6.Iannello S, Bosco P, Cavaleri A, et al. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Obstet Rev 2002;3:123-5.  Back to cited text no. 6    
7.Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diag­nosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36:437-46.  Back to cited text no. 7    
8.Izzedine H, Bodaghi B, launay-vacher V, Deray G. Eye and Kidney: From Clinical Findings to Genetic Explanations. J Am Soc Nephrol 2003;14:516-29.  Back to cited text no. 8    
9.Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal Function in Carriers of Bardet-Biedl syndrome. Arch Ophthal 2003;121:804-10.   Back to cited text no. 9    
10.Katsainis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mole Genet 2001;10:2293-9.  Back to cited text no. 10    
11.Magen D, Ish-Shalom N, Lorber A, Khoury A, Zelikovic I. An infant with polydactyl and renal anomalies: early diagnosis of a rare syndrome. Nephrol Dial Transplant 2002;17: 2261-4.  Back to cited text no. 11    
12.Kulaga HM, Leitch CC, Eichers ER, et al. Loss of BBS proteins causes insomnia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet 2004;36:994­8.  Back to cited text no. 12    
13.Karmous-Benailly H, Martinovic J, Gubler M­C, et al. Antenatal presentation of Bardet-Biedl Syndrome may mimic Meckel Syndrome. Am J Hum Genet 2005;76:493-504.  Back to cited text no. 13    
14.O'Dea D, Parfrey PS, Harnett JD, Hefferton D, Cramer BC, Green L. The importance of renal impairment in the natural history of Bardet- Biedl syndrome. Am J Kidney Dis 1996;27:776-83.  Back to cited text no. 14    
15.Pash A, Hoefele J, Grimminger H, et al. Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol Dial Transplant 2004;19: 3172-5.  Back to cited text no. 15    
16.Michalk DV. Chronic renal failure in child­hood. Z Arztl fortbild Qualitatssich 1997;91: 227-32.  Back to cited text no. 16    

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Correspondence Address:
Ehsan Valavi
Pediatric Nephrologist, Abuzar Pediatric Hospital, Ahvaz Jundishapur University of Medical Science, Parastar Avenu, Ahvaz
Iran
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PMID: 19414950

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    Abstract
    Introduction
    Case Report
    Discussion
    References
    Article Figures
 

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