Renal Failure due to Bardet-Biedl Syndrome

Ulusoy, Şükrü; Kaynar, Kubra; Gul, Semih; Ükinç, Kubilay

doi:10.1159/000080479

Cited by 5 publications

(3 citation statements)

References 26 publications

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“…If polyuria is absent or has been overlooked, the first renal manifestation may be chronic or end-stage renal disease (ESRD) [24,36,50,51,[54][55][56][57][58][59][60] that occurs at various ages from birth. According to O'Dea et al, 25% of BBS patients have chronic renal failure by age 48 and 10% develop ESRD in childhood or adolescence [51].…”

Section: Renal Manifestationsmentioning

confidence: 99%

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

et al. 2011

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Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities. The syndrome is genetically heterogeneous with 14 BBS genes identified to date. Since the cloning of the first gene in 2000, a combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology. Pleiotropy of ciliopathy phenotypes and complex genetic interactions between causal and modifying alleles of ciliary genes contribute to phenotypic variability. In particular, kidney disease in BBS is clinically heterogeneous, but is now recognized as a cardinal feature and a major cause of mortality in BBS.

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Section: Renal Manifestationsmentioning

confidence: 99%

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

et al. 2011

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“…Unter wiederholter Desmopressingabe kommt es zur Tachyphylaxie durch Depletion der vWF-Speicher. Desmopressin erhöht nicht nur die Plasmaspiegel an vWF, sondern auch die Spiegel an Faktor VIII und Gewebe-Plasminogen-Aktivator (tPA), während Protein C-Spiegel und PlasminogenAktivator-Inhibitor-1 (PAI-1) reduziert werden [154,155]. Typ 2-Diabetiker mit chronischer Niereninsuffizienz zeigen allerdings keine Senkung ihrer erhöhten PAI-1-Spiegel unter Desmopressintherapie [156].…”

Section: Desmopressinunclassified

Platelet dysfunction in Uremia

Hörl

2006

Wien Klin Wochenschr

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Bleeding diathesis and thrombotic tendencies are characteristic findings in patients with end-stage renal disease. The pathogenesis of uremic bleeding tendency is related to multiple dysfunctions of the platelets. The platelet numbers may be reduced slightly, while platelet turnover is increased. The reduced adhesion of platelets to the vascular subendothelial wall is due to reduction of GPIb and altered conformational changes of GPIIb/IIIa receptors. Alterations of platelet adhesion and aggregation are caused by uremic toxins, increased platelet production of NO, PGI(2), calcium and cAMP as well as renal anemia. Correction of uremic bleeding is caused by treatment of renal anemia with recombinant human erythropoietin or darbepoetin alpha, adequate dialysis, desmopressin, cryoprecipitate, tranexamic acid, or conjugated estrogens. Thrombotic complications in uremia are caused by increased platelet aggregation and hypercoagulability. Erythrocyte-platelet-aggregates, leukocyte-platelet-aggregates and platelet microparticles are found in higher percentage in uremic patients as compared to healthy individuals. The increased expression of platelet phosphatidylserine initiates phagocytosis and coagulation. Therapy with antiplatelet drugs does not reduce vascular access thrombosis but increases bleeding complications in endstage renal disease patients. Heparin-induced thrombocytopenia (HIT type II) may develop in 0-12 % of hemodialysis patients. HIT antibody positive uremic patients mostly develop only mild thrombocytopenia and only very few thrombotic complications. Substitution of heparin by hirudin, danaparoid or regional citrate anticoagulation should be decided based on each single case.

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“…As curative treatment is not available, premature death may occur -most frequently associated with polycystic kidney disease and complications from obesity (type 2 diabetes mellitus, hypertension, hyperlipidaemia) (30,32,33). Given the accepted genetic basis of BBS, treatment has been directed towards symptomatic management (34)(35)(36)(37)(38). In children, manifestations can be challenging for caregivers as patients often exhibit behavioural disorders and visual compromise, as was found in the following case.…”

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confidence: 99%

Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

Genuis

2011

Clinical Genetics

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Given the genetic basis of their disease, children with major chromosomal abnormalities including Bardet-Biedl syndrome (BBS) are generally considered to have a guarded prognosis with persistence or progression of disease manifestations. Although various therapeutic interventions are commonly used to control signs and symptoms of illness, parents of BBS children are usually cautioned against hoping for sustained improvement. A case of a 21-month-old girl, diagnosed with BBS, manifesting signs of worsening visual impairment, obesity, irascible and disordered behaviour, as well as developmental delay, is presented. After initial evaluation suggested specific biochemical deficiencies, nutritional status correction was undertaken and the patient's signs and symptoms subsequently resolved over the course of several months. To the authors' knowledge, this is the first case report of sustained resolution of all disease manifestations in the face of previously deteriorating health in a young child with this major chromosomal abnormality. It appears that biochemical imbalances and insufficiencies resulting from abnormal metabolism and excretion are potentially amenable to extraordinary dietary supplementation, with partial or complete resolution of clinical abnormalities. It is recommended that all children with chromosomal abnormalities have biochemical and nutritional status evaluation with correction of disordered biochemistry as is possible.

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Renal Failure due to Bardet-Biedl Syndrome

Cited by 5 publications

References 26 publications

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Platelet dysfunction in Uremia

Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

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