Familial isolated congenital asplenia: case report and literature review
ABSTRACT Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.
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ABSTRACT: Spleen has been considered a neglected organ so far, even though is strictly linked to liver. The spleen plays an important role in the modulation of the immune system and in the maintenance of peripheral tolerance via the clearance of circulating apoptotic cells, the differentiation and activation of T and B cells and production of antibodies in the white pulp. Moreover, splenic macrophages are able to remove bacteria from the blood and protect from sepsis during systemic infections. We review the spleen function and its assessment in humans starting from the description of spleen diseases, ranging from the congenital asplenia to secondary hyposplenism. From the literature data it is clear that obesity in humans affects different compartments of immune system, even thought there are still few data available on the implicated mechamisms. The intent is to enable clinicians to evaluate the newly recognized role of metabolic and endocrine functions of the spleen with special emphasis to obesity and nonalcoholic fatty liver disease in the context of the available literature. Moreover, understanding the spleen function could be important to develop appropriate prevention strategies in order to counteract the pandemia of obesity. In this direction, we suggest spleen longitudinal diameter at ultrasonography, as simple, cheap and largely available tool, be used as new marker for assessing splenic function, in the context of the so-called liver-spleen axis.World Journal of Gastroenterology 06/2013; 19(23):3534-3542. DOI:10.3748/wjg.v19.i23.3534 · 2.43 Impact Factor
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ABSTRACT: Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense, a frameshift duplication, and five different missense-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.Science 04/2013; 340(6135). DOI:10.1126/science.1234864 · 31.48 Impact Factor
Turk Pediatri Arsivi 12/2011; 46(4):351-352. DOI:10.4274/tpa.46.502 · 0.06 Impact Factor