Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation
Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation
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DOI：
10.1111/j.1600-0609.2006.00811.x
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发表时间：
2007-03-01
影响因子：
3.1
通讯作者：
Jeunemaitre, Xavier
中科院分区：
文献类型：
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作者：
Beaurain, Genevieve;Mathieu, Flavie;Jeunemaitre, Xavier
脱水遗传性口细胞增多症（DHS）是一种罕见的遗传性溶血性贫血的显性形式。在一些家庭中，假性高钾血症伴随着DHS。家族性高钾血症高血压（FHHt）是一种罕见的常染色体显性形式的动脉高血压，与真正的高钾血症有关。我们介绍了一个法国大家庭，其中DHS和FHHt在两个独立的分支中被独立诊断。A支轻度DHS伴假性高钾血症。在B分支，先证者和她的女儿最初被诊断为FHHt，基于高血压和高钾血症的巧合。在发现A分支和B分支有亲缘关系后，对B分支的患病成员进行重新调查，诊断为DHS，产生了法国已知的最大的DHS亲属。这允许基于19个微卫星标记在12个受影响的和10个未受影响的16q24.1季度进行广泛的连锁分析，其中一个已知的DHS位点映射到。标记D16S3074和D16S476的最大2点LOD评分（theta = 0时为4.71）。单倍型分析定义了一个新的11.5 cM疾病区间，其上限在微卫星D16S3037。
Dehydrated hereditary stomatocytosis (DHS) is a rare dominant form of hereditary haemolytic anaemia. In some families, pseudohyperkalaemia accompanies DHS. Familial hyperkalaemic hypertension (FHHt), a rare autosomal dominant form of arterial hypertension, is associated with genuine hyperkalaemia. We present a large French family in which DHS and FHHt were diagnosed independently in two separate branches. In branch A, mild DHS accompanied by pseudohyperkalaemia was found. In branch B, the proband and her daughter were initially diagnosed with FHHt, based on the coincidence of high blood pressure and hyperkalaemia. After finding out that branches A and B were related, reinvestigation of the affected members of branch B lead to the diagnosis of DHS, yielding the largest DHS kindred known in France. This allowed extensive linkage analysis based on 19 microsatellites markers in 12 affected and 10 unaffected members at 16q24.1qter, where one known DHS locus maps to. A maximal two-point LOD score (4.71 at theta = 0) was obtained for markers D16S3074 and D16S476. Haplotype analysis led to the definition of a new 11.5 cM disease interval with an upper limit at microsatellite D16S3037.