Assounga A G, Yacoubou Y, Makosso E, Ibara J R, Gombet T
Department of Nephrology and Haemodialysis, Centre Hospitalier Universitaire and Marien Ngouabi University, Brazaville, Congo.
S Afr Med J. 2003 Jul;93(7):542-4.
It is now well established that at least two genes are associated with autosomal dominant polycystic kidney disease (ADPKD).
To analyse the clinical expression of ADPKD in Congolese patients and to compare ADPKD expression between families.
Following informed consent, ADPKD patients admitted to Brazzaville University Hospital (Congo) were reviewed and their relatives aged 20 years and older were screened by means of a clinical examination, abdominal ultrasound, urinalysis and determination of serum creatinine.
We found 7 patients with ADPKD, belonging to 7 distinct families, and identified 100 relatives of whom 50, aged from 20 to 68 years, were diagnosed as having ADPKD. Polycystic kidney disease was associated with polycystic liver in 4 families. In the remaining 3 families no liver cysts were found. No family had a mixture of members with kidney cysts only and members with kidney and liver cysts. This finding was age-independent.
Liver cysts follow a family pattern in our ADPKD patients. We suggest that our patients may carry at least two different genes for ADPKD, one of which may be associated with renal cysts alone and other with both renal and liver cysts.
现已明确至少有两个基因与常染色体显性多囊肾病（ADPKD）相关。
分析刚果患者中ADPKD的临床表型，并比较不同家族间ADPKD的表型。
在获得知情同意后，对刚果布拉柴维尔大学医院收治的ADPKD患者进行评估，并通过临床检查、腹部超声、尿液分析和血清肌酐测定对其20岁及以上的亲属进行筛查。
我们发现了7例ADPKD患者，分属于7个不同的家族，并鉴定出100名亲属，其中50名年龄在20至68岁之间，被诊断患有ADPKD。4个家族中多囊肾病与多囊肝相关。在其余3个家族中未发现肝囊肿。没有一个家族既有仅患有肾囊肿的成员，又有同时患有肾囊肿和肝囊肿的成员。这一发现与年龄无关。
在我们的ADPKD患者中，肝囊肿呈现家族性模式。我们认为我们的患者可能携带至少两种不同的ADPKD基因，其中一种可能仅与肾囊肿相关，另一种与肾囊肿和肝囊肿均相关。
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