scholarly journals Bardet-Biedl syndrome presented as chronic kidney disease with rare clinical associations in a Sudanese woman (case report)

2020 ◽  
Author(s):  
Omer Elawad ◽  
Mohammed Ahmed ◽  
Ahmed Albashir ◽  
Habiballa Yousif ◽  
Mohamed Mohamed Ahmed
Keyword(s):  
Autosomal Recessive ◽  
Learning Difficulties ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Clinical Presentations ◽  
Renal Malformations ◽  
Hepatic Haemangioma ◽  
Clinical Associations ◽  
Gall Bladder Stones

Abstract: Bardet–Biedl syndrome is a rare autosomal recessive disorder falls under the spectrum of ciliopathy disorders. Its characterized by rod-cone dystrophy, renal malformations, postaxial polydactyly, learning difficulties, central obesity and hypogonadism. Hyponatremia, hepatic haemangioma, gall bladder stones and subclinical hypothyroidism rarely described in the literature as clinical presentations in BBS.

scholarly journals Bardet-Biedl Syndrome: A Case Report

2018 ◽  
Vol 8 (2) ◽  
pp. 184-186
Author(s):  
Miah Wahiduzzaman ◽  
Muhammad Abdur Rahim ◽  
Mahboob Iftekhar
Keyword(s):  
Diabetes Mellitus ◽  
Congenital Heart Disease ◽  
Congenital Heart ◽  
Autosomal Recessive ◽  
Learning Difficulties ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Development Delay

Bardet-Beidl syndrome is a rare autosomal recessive disorder having heterogeneous clinical manifestations including rod-cone dystrophy, polydactyly, obesity, learning difficulties, development delay, speech deficit, diabetes mellitus, congenital heart disease etc. Most of these symptoms are not present at birth but appear and progressively worsen during the first and second decades of life. The combined occurrence of diabetes mellitus and retinitis pigmentosa is rare. Here, we present such a case.Birdem Med J 2018; 8(2): 184-186

scholarly journals Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus

1970 ◽  
Vol 13 (1) ◽  
pp. 97-99
Author(s):  
Monzoor Quader ◽  
Mohammad Syedul Islam ◽  
Quazi Mamatz Uddin Ahmed ◽  
Md Abul Kalam Azad ◽  
Md Abdur Rahim
Keyword(s):  
Diabetes Mellitus ◽  
Renal Cell Carcinoma ◽  
Mental Retardation ◽  
Central Obesity ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Cone Dystrophy ◽  
Learning Difficulty ◽  
Bardet Biedl Syndrome ◽  
Increased Risk

A 13 year old boy presented with obesity, reduced vision, mental retardation, hypogonadism, delayed development and learning difficulty. On examination, he had polydactyly, moon face, bilateral gynaecomastia, small penis and testis. Retinitis pigmentosa was found on fundoscopy. With these typical features, he was diagnosed as a case of Laurence-Moon-Bardet-Beidle syndrome. It is a rare autosomal recessive disorder with mutation in 6 loci identified so far. It is commonly found in communities with high inter-family marriage. Clinical features appear early in childhood and diagnosis is usually done by puberty. Prominent features include rod-cone dystrophy leading to blindness, postaxial polydactyly, central obesity, learning disability, hypogonadism in males, renal dysfunction with increased risk for renal cell carcinoma. DOI: http://dx.doi.org/10.3329/jom.v13i1.10083 JOM 2012; 13(1): 97-99

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

Bardet-Bidel Syndrome: A Case Report

2013 ◽  
Vol 12 (3) ◽  
pp. 67-69
Author(s):  
Kamal Hossain ◽  
Md Badruddoza
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Dystrophy ◽  
Learning Difficulties ◽  
Clinical Findings ◽  
Bardet Biedl Syndrome ◽  
Medical College ◽  
Characteristic Features ◽  
Human Genetic Disorder ◽  
And Function

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic human genetic disorder characterized by retinal dystrophy, truncal obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localize to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We have presented a 11 years old female patient exhibiting characteristic features of Bardet Biedl syndrome (BBS) and then the literature is reviewed. Chattagram Maa-O-Shishu Hospital Medical College Journal Volume 12, Issue 3, September 2013: 67-69

scholarly journals Day Care General Anaesthesia for a Child with Bardet-Biedl Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-2 ◽  
Author(s):  
Suresh Chittoodan ◽  
Suzanne Crowe
Keyword(s):  
General Anesthesia ◽  
General Anaesthesia ◽  
Day Care ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Perioperative Period ◽  
Systemic Effects ◽  
Bardet Biedl Syndrome ◽  
Rare Autosomal Recessive Disorder

Bardet-Biedl syndrome is a very rare autosomal-recessive disorder with pan-systemic effects. The perioperative period may be hazardous for patients with this disorder. We describe the presenting features and management of a child who was scheduled for elective ambulatory general anesthesia and discuss the relevant points for the busy anesthesiologist.

Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis

2021 ◽  
Vol 14 (1) ◽  
pp. e236325
Author(s):  
Parminder Kaur ◽  
Chakshu Chaudhry ◽  
Harsha Neelam ◽  
Inusha Panigrahi
Keyword(s):  
Cognitive Impairment ◽  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Postaxial Polydactyly ◽  
Multiple Genes ◽  
Renal Abnormalities

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

scholarly journals Bardet Biedl Syndrome: A Case Report

2019 ◽  
Vol 9 (2) ◽  
pp. 162-164
Author(s):  
Md Masud Un Nabi ◽  
Md Faruque Pathan ◽  
Milton Barua
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Night Blindness ◽  
Autosomal Recessive ◽  
Liver Enzymes ◽  
Autosomal Recessive Disorder ◽  
Bardet Biedl Syndrome ◽  
Elevated Liver Enzymes ◽  
Hormonal Evaluation

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology. Birdem Med J 2019; 9(2): 162-164

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A 19 Years Girl with Total Blindness and End Stage Renal Disease

2014 ◽  
Vol 15 (1) ◽  
pp. 94-97
Author(s):  
Matiur Rahman ◽  
Nurul Islam ◽  
Sarmistha Biswas ◽  
H A Zaved ◽  
Gourab Dewan
Keyword(s):  
End Stage Renal Disease ◽  
Autosomal Recessive ◽  
Renal Involvement ◽  
Autosomal Recessive Disorder ◽  
End Stage Kidney Disease ◽  
Bardet Biedl Syndrome ◽  
Prognostic Importance ◽  
Total Blindness ◽  
Stage Renal Disease ◽  
End Stage

Laurence-Moon-Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized bystructural and functional abnormalities of different organ and tissues. Renal involvement is the single most feature of prognostic importance. We report a case with end stage kidney disease. The diagnosis was missed until patient presented with renal dysfunction. Early diagnosis and screening for renal involvement is crucial for prolong survival.DOI: http://dx.doi.org/10.3329/jom.v15i1.19885 J Medicine 2014; 15: 94-97

scholarly journals Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Haihua Lin ◽  
Youhong Fang ◽  
Lin Han ◽  
Jie Chen ◽  
Jingan Lou ◽  
...  
Keyword(s):  
Hepatic Steatosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Underlying Mechanism ◽  
Causative Factor ◽  
Homozygous Mutation ◽  
Clinical Presentations ◽  
Chinese Girl ◽  
Gpd1 Gene ◽  
Generation Sequencing

Transient infantile hypertriglyceridemia is a rare autosomal recessive disorder characterized by hypertriglyceridemia, hypohepatia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Mutations in GPD1 gene are considered the causative factor but the underlying mechanism of this disorder is still enigmatic. To date, only 24 different GPD1 mutations have been reported in the literature worldwide with transient infantile hypertriglyceridemia or relevant conditions. Here we report a Chinese girl who developed hepatomegaly hepatic steatosis, elevated transaminase and hypertriglyceridemia from the age of 4 months. A novel homozygous variant c.454C>T (p.Q152*) was found in GPD1 gene by next-generation sequencing. This patient is the 3rd Asian reported with transient infantile hypertriglyceridemia. We summarized the clinical presentations of transient infantile hypertriglyceridemia and also expanded the spectrum of disease-causing mutations in GPD1.

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