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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

External appearance of the cases; (a) Case  1, (b) Case  2.
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Related In: Results  -  Collection


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fig1: External appearance of the cases; (a) Case  1, (b) Case  2.

Mentions: A 41-year-old male applied to the emergency department with complaints of diarrhea, nausea, and vomiting (Figure 1(a)). From the tests done, as the kidney function test results were high, he was admitted with an initial diagnosis of acute kidney failure. However, following appropriate fluid replacement therapy there was no improvement apart from a relatively small drop in the kidney function tests. On the urinary system USG, the right kidney was calculated as 100 × 40 mm with parenchyma thickness of 10 mm and the left kidney as 110 × 51 mm with parenchyma thickness of 13 mm and GFR as 84 mL/min. Serum creatinine level was 1.67 mg/dL. Other biochemical markers were normal. The case was accepted as stage II chronic kidney failure.


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)

External appearance of the cases; (a) Case  1, (b) Case  2.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig1: External appearance of the cases; (a) Case  1, (b) Case  2.
Mentions: A 41-year-old male applied to the emergency department with complaints of diarrhea, nausea, and vomiting (Figure 1(a)). From the tests done, as the kidney function test results were high, he was admitted with an initial diagnosis of acute kidney failure. However, following appropriate fluid replacement therapy there was no improvement apart from a relatively small drop in the kidney function tests. On the urinary system USG, the right kidney was calculated as 100 × 40 mm with parenchyma thickness of 10 mm and the left kidney as 110 × 51 mm with parenchyma thickness of 13 mm and GFR as 84 mL/min. Serum creatinine level was 1.67 mg/dL. Other biochemical markers were normal. The case was accepted as stage II chronic kidney failure.

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