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Two brothers with bardet-biedl syndrome presenting with chronic renal failure.

Sahin C, Huddam B, Akbaba G, Tunca H, Koca E, Levent M - Case Rep Nephrol (2015)

Bottom Line: All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia.Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality.This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.

ABSTRACT
Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

No MeSH data available.


Related in: MedlinePlus

Hypogenitalism of the cases. (a) Micropenis and undescended left testis in Case  1. (b) Micropenis in Case  2.
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fig3: Hypogenitalism of the cases. (a) Micropenis and undescended left testis in Case  1. (b) Micropenis in Case  2.

Mentions: In respect to cardiac pathology, left ventricle function was evaluated as normal on the echocardiography. A moderate level of mental retardation (IQ: 35–49) was determined in the psychiatric evaluation. There was polydactyly in both hands and feet and syndactyly of fingers 3–5 on the left hand (Figure 2). The patient had total loss of vision and, in the ophthalmological examination, exotropia and mature cataracts were observed in both eyes. Fundus examination could not be conducted because of the cataracts. Following ERG, cataract surgery was recommended to the patient. On scrotal USG, the left testis could not be visualized (intra-abdominal ectopy?). As the patient had a micropenis and undescended left testis (Figure 3(a)) in the sacral, pubic, and axillary hair areas, hormonal tests were performed and no findings of hypophyseal deficiency were observed. From all these findings, a diagnosis was made of BBS and renal failure. Questions were asked about similar anomalies in the family and the brother was called to the polyclinic for testing.


Two brothers with bardet-biedl syndrome presenting with chronic renal failure.

Sahin C, Huddam B, Akbaba G, Tunca H, Koca E, Levent M - Case Rep Nephrol (2015)

Hypogenitalism of the cases. (a) Micropenis and undescended left testis in Case  1. (b) Micropenis in Case  2.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4413955&req=5

fig3: Hypogenitalism of the cases. (a) Micropenis and undescended left testis in Case  1. (b) Micropenis in Case  2.
Mentions: In respect to cardiac pathology, left ventricle function was evaluated as normal on the echocardiography. A moderate level of mental retardation (IQ: 35–49) was determined in the psychiatric evaluation. There was polydactyly in both hands and feet and syndactyly of fingers 3–5 on the left hand (Figure 2). The patient had total loss of vision and, in the ophthalmological examination, exotropia and mature cataracts were observed in both eyes. Fundus examination could not be conducted because of the cataracts. Following ERG, cataract surgery was recommended to the patient. On scrotal USG, the left testis could not be visualized (intra-abdominal ectopy?). As the patient had a micropenis and undescended left testis (Figure 3(a)) in the sacral, pubic, and axillary hair areas, hormonal tests were performed and no findings of hypophyseal deficiency were observed. From all these findings, a diagnosis was made of BBS and renal failure. Questions were asked about similar anomalies in the family and the brother was called to the polyclinic for testing.

Bottom Line: All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia.Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality.This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

View Article: PubMed Central - PubMed

Affiliation: Department of Internal Medicine, School of Medicine, Mugla Sıtkı Kocman University, Orhaniye Mahallesi İsmet Catak Caddesi, 48000 Mugla, Turkey.

ABSTRACT
Bardet-Biedl Syndrome (BBS) is a rarely seen autosomal recessive transfer disease characterised by retinal dystrophy, obesity, extremity deformities, mental retardation, and renal and genital system anomalies. BBS shows heterogenic transfer. To date, 18 genes (BBS1-18) and 7 BBS proteins have been defined as related to BBS. All of the defined BBS genes have been shown to be related to the biogenesis or function of cilia. Renal failure accompanying the syndrome, especially in the advanced stages, is the most common cause of mortality. Therefore, as one of the major diagnostic criteria, renal damage is of great importance in early diagnosis. This paper presents the cases of two brothers with BBS who presented with chronic renal failure.

No MeSH data available.


Related in: MedlinePlus