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Saudi Journal of Kidney Diseases and Transplantation
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Table of Contents   
CASE REPORT  
Year : 2017  |  Volume : 28  |  Issue : 2  |  Page : 384-387
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation


Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India

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Date of Web Publication23-Mar-2017
 

   Abstract 

Bardet–Biedl syndrome (BBS) is a multisystem autosomal recessive disorder with clinical and genetic heterogeneity. It is a type of ciliopathy characterized by retinal dystrophy, central obesity, polydactyly, cognitive impairment, and gonadal and renal dysgenesis. It has been suggested that the involved proteins attach to the basal body of ciliated cells making this a disorder of ciliary dysfunction. We report two cases of typical BBS in a 17-year-old female and 29-year-old male patient, who presented for live-related renal transplant. We discuss the relevant points of the syndrome regarding anesthetic management.

How to cite this article:
Vora KS, Modi MP, Butala BP, Shah VR. Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. Saudi J Kidney Dis Transpl 2017;28:384-7

How to cite this URL:
Vora KS, Modi MP, Butala BP, Shah VR. Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. Saudi J Kidney Dis Transpl [serial online] 2017 [cited 2019 Apr 24];28:384-7. Available from: http://www.sjkdt.org/text.asp?2017/28/2/384/202775

   Introduction Top


The Bardet–Biedl syndrome (BBS) is an autosomal recessive disorder with marked variability of clinical expression. The clinical manifestations of this syndrome are complex and ambiguous due to phenotypic variability of the disorder. The main features include obesity, polydactyly, pigmentary retinopathy, learning disabilities, varying degrees of intellectual impairment, hypogonadism, and renal abnormalities. This syndrome is seen much more commonly in the Middle East, with an incidence of 1:13,500.[1]


   Case Reports Top


Case 1

A 17-year-old female patient with BBS and chronic renal failure (CRF) was posted for live-related renal transplantation. She was born at term, without complications. The patient had a normal younger brother and one stillborn sibling. She had progressive deterioration of vision for the past 5–10 years, which started with night blindness. She was intellectually sound. The patient had irregular menstrual history and developed CRF about six months before presentation. On examination, she was obese [body mass index (BMI) 31.1 kg/m2] with short neck having Class III Mallampati airway, postaxial polydactyly of both upper limbs and left lower limb, and scoliosis. Her vitals were within normal limits. She was diagnosed to have hypothyroidism two years earlier and was on tablet Eltroxin (100 μg) once daily. Electrocardiogram (ECG) and X-ray of the chest were within normal limits. Echocardiography showed mild concentric left ventricular hypertrophy and Grade 1 diastolic dysfunction. X-ray spine showed lumber scoliosis with concavity to right. All laboratory examinations were within normal limits except serum creatinine, which was 3.3 mg%. She had adequate urine output of around 1–1.5 L/day. Ultrasonography of abdomen showed loss of corticomedullary differentiation in both kidneys. There was a cyst measuring 34 mm × 35 mm in the right ovary. The ocular fundus showed bilateral retinitis pigmentosa with tubular field vision and cataract. She was not on any ophthalmic medications. Magnetic resonance imaging of the brain was normal.

Case 2

A 29-year-male obese patient (BMI 31.2 kg/m2) presented with hypertension, hypothyroidism, and CRF of nine months duration. He had undergone excision of polydactyly on the left hand under general anesthesia at the age of four years. The patient had gradual dimness of vision from the age of 10 years. A Class II Mallampati airway was found. Urine output was 1–1.5 L/day. All laboratory examinations were within normal limits except serum creatinine, which was 5.3 mg%. Electrocardiogram and X-ray of the chest were within normal limits. Echocardiography showed mildly dilated left ventricle and reduced left ventricle dysfunction. Ultrasonography of the abdomen showed loss of corticomedullary differentiation in both kidneys. The ocular fundus showed bilateral retinitis pigmentosa.

Considering the deterioration of renal function in these patients, a preemptive renal transplantation was planned. One day before surgery, both the patients underwent hemodialysis for the first time. The preoperative arterial blood pressure and heart rate were normal. Both patients were premedicated with injection fentanyl 2 μg/kg and injection glycopyrrolate 0.04 mg/kg intravenously, 10 min before the induction. Intraoperatively, non-invasive blood pressure, electrocardiography, pulse oximetry, neuromuscular, and central venous pressure (CVP) monitoring were applied. A difficult airway cart was kept ready. Induction was performed with injection sodium thiopental 5 mg/kg intravenously and suxamethonium 0.5 mg/kg was administered to facilitate tracheal intubation. Mask ventilation and intubation was easy in both the cases. In both cases, anesthesia was maintained with isoflurane (0.8%–1% minimum alveolar concentration) in 40% O2:60% N2O and atracurium infusion. In the second case, combined general and epidural anesthesia was given as patient did not have spine deformity. A total of 2 L of normal saline and 100 mL of 20% albumin were infused to maintain CVP around 12–15 cm of water. The warm ischemia time was 2–3 min and the total anastomotic time was 25–30 min. Urine output was established within 2 min. Intraoperatively, anti-thymoglobulin 100 mg was infused slowly over 4 h. Injection mannitol 0.5 mg/kg and 100 mg furosemide were given before clamp release. Both the patients were hemodynamically stable during the operation that lasted 180–240 min. Patients were extubated and shifted to the transplant unit. Postoperative analgesia was provided by 100 μg tramadol intravenously. After the surgery, both patients received steroid-free immunosuppression with basiliximab. Both cases were managed postoperatively without any complications.

Our patients’ cases were particularly interesting in that they presented with CRF with hypothyroidism which is not noted in most other reported cases. The first case had scoliosis in addition.


   Discussion Top


BBS is a rare, genetic multisystem disorder linked to mutations in 14 genes (BBS: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/ BBS6, BBS7, ITC8/BBS8, B1/BBS9, BBS10, TRIM32/BBS11, BBS12, MKS1/BBS13, and CEP290/BBS14).[2] It is a ciliopathy secondary to the basal body dysfunction.[3],[4] Ciliopathies are a newly emerging group of genetic diseases caused by defects in the function or structure of cellular primary cilia leading to developmental deformities and kidney cysts and failure. Patients with BBS, have obesity and vision loss, usually before the teen years, and an extra pinky finger or toe. Some have heart defects, cystic kidneys, learning disorders, and loss of the sense of smell. The secondary features include speech disorder, developmental delay, ataxia, cardiovascular abnormalities, diabetes mellitus, diabetes insipidus, and hepatic and dental involvements. Skeletal dystrophy may be present in 4% of patients with BBS. Impairment of the function of BBS proteins appears to predispose patients to develop osteoporosis and to interfere with bone health. Ramirez et al reported various orthopedic findings in 27 patients with BBS.[5] An increased frequency of hypothyroidism and chronic otitis media has been reported previously in a large BBS cohort. Renal insufficiency is noted in 5%–25%, with progression to end-stage renal disease in 4%–10%. Kidney transplantation could offer a better quality of life to this mentally retarded, blind population.[6]

There is a paucity of published literature on the anesthetic management of patients with this syndrome for renal transplantation. Thus, recognition of the syndrome helps to understand perioperative anesthetic implications and judicious selection of anesthetic agents due to various anatomical and pathological anomalies.

Patients with BBS should be premedicated before coming to the operation theater since they have visual impairment and behavioral problems; the mental status of both patients in this report was good and did not necessitate any oral premedication.

Eighty-five percent of BBS patients are obese, which causes difficulty in obtaining a venous access and identification of landmarks for regional anesthesia.[7] Obesity leads to further predisposition to endocrine and cardiovascular disorders. Mask ventilation may become difficult due to facial dysmorphism and dental abnormalities. Obesity may result in desaturation with induction of anesthesia because of airway closure and decreased functional residual capacity. Obesity is also a risk factor for perioperative aspiration. Drug doses (on a per kg basis) should be reduced in cases of massive obesity. Abnormalities in epiglottis may cause difficult intubation.[8] Fortunately, in both patients, we did not have any problem with intubation. About 50% of patients with BBS are hypertensive and 32% have diabetes mellitus which should be optimized before transplantation. Drugs that increase blood sugar levels should be avoided. BBS is also associated with dilated cardiomyopathy, interventricular septum hypertrophy, and/or left ventricular hypertrophy. During the perioperative period, life-threatening arrythmias can occur since these patients have abnormal electrical and autonomic behavior. Therefore, preoperative ECG and echocardiography are mandatory during the preanesthetic assessment. One of the most common features of BBS is retinitis pigmentosa. Degeneration of photoreceptor layer is the primary retinal site of BBS where the ciliar cells (rods and cones) fail to thrive.[9] In addition to blindness, these patients also have nystagmus, myopia, cataract, and glaucoma. Interaction of the medicines used for these ocular diseases with anesthetic medicines should be considered.

Either general or regional anesthesia can be used in patients with BBS and both techniques have been used successfully for renal transplantation. To avoid the risk of general anesthesia such as aspiration, difficult airway, avoidance of use of general anesthetic agent and muscle relaxants due to hypothyroidism, and iatrogenic pulmonary infection from intubation, combined spinal-epidural blocks can be performed.[10] Our patient had scoliosis where regional anesthesia is less reliable.[11] Hence, we preferred general anesthesia with availability of newer short-acting anesthetic agents and disposable equipment. Combined general and epidural anesthesia was given in the second patient since he did not have spine deformity. Patients posted for renal transplantation can be induced with either thiopentone or propofol. We induced our study patients with thiopentone and suxamethonium to facilitate tracheal intubation. Blood pressure response to intubation was attenuated with prior administration of fentanyl as most patients with BBS are hypertensive. Anesthesia was maintained with atracurium and isoflurane. All volatile anesthetic agents have been used for renal transplantation, but isoflurane remains the agent of choice because of rapid uptake and clearance, cardiac stability, and minimum metabolism. Sevoflurane is avoided because of possible relationship between degradation products and renal failure. Atracurium is the relaxant of choice as its metabolism is independent of renal function. Patients with renal insufficiency need careful titration of perioperative fluids with invasive monitoring and judicious use of drugs excreted by the kidneys. Similar to our cases, Podwinska et al reported a case of BBS who underwent cholecystectomy. The patient was managed with general anesthesia without any complications.[12]

In summary, general anesthesia was safely administered in our patients with a rare congenital condition. Although no complications were encountered in our cases, this syndrome has the potential for difficulties in managing the airway and the cardiovascular and renal systems.

Conflict of interest:

None declared.

 
   References Top

1.
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. 1
    
2.
Water AM, Beals PL. Bardet–Biedl Syndrome. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1363.  Back to cited text no. 2
    
3.
Ansley SJ, Badano JL, Blacque OE, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003;425:628-33.  Back to cited text no. 3
    
4.
Adams M, Smith UM, Logan CV, Johnson CA. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies. J Med Genet 2008;45:257-67.  Back to cited text no. 4
    
5.
Ramirez N, Marrero L, Carlo S, Cornier AS. Orthopaedic manifestations of Bardet-Biedl syndrome. J Pediatr Orthop 2004;24:92-6.  Back to cited text no. 5
    
6.
Hooda AK, Karan SC, Bishnoi JS, Nandwani A, Sinha T. Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol 2009;19: 112-4.  Back to cited text no. 6
[PUBMED]  [Full text]  
7.
Low J, Brown TC. Bardet–Biedl syndrome: A review of anaesthetic problems. Pediatr Anaesth 1992;2:245-8.  Back to cited text no. 7
    
8.
Urben SL, Baugh RF. Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. Otolaryngol Head Neck Surg 1999;120:571-4.  Back to cited text no. 8
    
9.
Spaggiari E, Salati R, Nicolini P, Borgatti R, Pozzoli U, Polenghi F. Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. Int Ophthalmol 1999;23:61-7.  Back to cited text no. 9
    
10.
Mahajan R, Kumar Batra Y, Kumar S, Kumar Grover V. Anesthetic management of a patient with Bardet-Biedl syndrome and dilated cardiomyopathy. Minerva Anestesiol 2007;73:191-4.  Back to cited text no. 10
    
11.
Kleinman W. Spinal, epidural and caudal blocks. In: Morgan GE Jr., Mikhail MS, Murray MJ, Larson CP Jr., editors. Clinical Anesthesiology. New York: Lange Medical Books: McGraw-Hill; 2002. p. 253-82.  Back to cited text no. 11
    
12.
Podwinska E, Scorupa A, Wolna JK, Mazur J, Gawrychowski J. Laurence-Moon-Bardet–Biedl syndrome: A case report. Anest Int Ter 2007; 39:77-8.  Back to cited text no. 12
    

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Correspondence Address:
Kalpana S Vora
Department of Anesthesia and Critical Care, Institute of Kidney Disease and Research Center, Dr. H. L. Trivedi Institute of Transplantation Sciences, Asarwa, Ahmedabad, Gujarat
India
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DOI: 10.4103/1319-2442.202775

PMID: 28352024

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