Gallbladder agenesis

Changed by Maxime St-Amant, 30 Mar 2015

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Agenesis of gallbladder is a rare congenital anomaly.

Epidemiology

Incidence is <0.1% (range 0.04-0.1%). There is strong female predominace present among the symptomatic cases.

Clinical presentation

Most of the patients with agenesis of the gallbladder are asymptomatic. Although some patients may present with signs and symptoms of gallbladder disease and ultrasound may suggest findings consistent with chronic cholecystitis (shrunken gallbladder). Jaundice may be present with dilated common bile duct. There is high incidence of choledocholithiasis.

Pathology

Exact aetiology is unknown, however it is thought to result either from failure of cystic bud to form or from lack of vacuolation. Several cases of familial gallbladder agenesis have also been reported, suggesting a hereditary basis of the anomaly.

Associations

Agenesis of gallbladderGallbladder agensis is associated with several other anomalies:

  • -<p><strong>Agenesis of gallbladder</strong> is a rare congenital anomaly.</p><h4>Epidemiology</h4><p>Incidence is &lt;0.1% (range 0.04-0.1%). There is strong female predominace present among the symptomatic cases.</p><h4>Clinical presentation</h4><p>Most of the patients with agenesis of the gallbladder are asymptomatic. Although some patients may present with signs and symptoms of gallbladder disease and ultrasound may suggest findings consistent with <a href="/articles/chronic-cholecystitis">chronic cholecystitis</a> (shrunken gallbladder). <a href="/articles/jaundice">Jaundice</a> may be present with dilated <a title="Common bile duct" href="/articles/common-bile-duct">common bile duct</a>. There is high incidence of <a href="/articles/choledocholithiasis">choledocholithiasis</a>.</p><h4>Pathology</h4><p>Exact aetiology is unknown, however it is thought to result either from failure of cystic bud to form or from lack of vacuolation. Several cases of familial gallbladder agenesis have also been reported, suggesting a hereditary basis of the anomaly.</p><h5>Associations</h5><p>Agenesis of gallbladder is associated with several other anomalies:</p><ul>
  • +<p><strong>Agenesis of gallbladder</strong> is a rare congenital anomaly.</p><h4>Epidemiology</h4><p>Incidence is &lt;0.1% (range 0.04-0.1%). There is strong female predominace present among the symptomatic cases.</p><h4>Clinical presentation</h4><p>Most of the patients with agenesis of the gallbladder are asymptomatic. Although some patients may present with signs and symptoms of gallbladder disease and ultrasound may suggest findings consistent with <a href="/articles/chronic-cholecystitis">chronic cholecystitis</a> (shrunken gallbladder). <a href="/articles/jaundice">Jaundice</a> may be present with dilated <a href="/articles/common-bile-duct">common bile duct</a>. There is high incidence of <a href="/articles/choledocholithiasis">choledocholithiasis</a>.</p><h4>Pathology</h4><p>Exact aetiology is unknown, however it is thought to result either from failure of cystic bud to form or from lack of vacuolation. Several cases of familial gallbladder agenesis have also been reported, suggesting a hereditary basis of the anomaly.</p><h5>Associations</h5><p>Gallbladder agensis is associated with several other anomalies:</p><ul>
  • -<li><a href="/articles/horseshoe_kidney">horseshoe kidney</a></li>
  • +<li><a href="/articles/horseshoe-kidney">horseshoe kidney</a></li>
  • +<li>
  • +<a title="Heterotaxy syndrome" href="/articles/heterotaxy-syndrome">heterotaxy syndrome</a><ul>
  • +<li>
  • +<a title="Heterotaxy syndrome" href="/articles/heterotaxy-syndrome">​</a><a title="​polysplenia syndrome" href="/articles/polysplenia-syndrome">polysplenia syndrome</a>
  • +</li>
  • +<li><a title="asplenia syndrome" href="/articles/asplenia-syndrome">asplenia syndrome</a></li>
  • +</ul>
  • +</li>

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