Fuchshuber A, Deltas C C, Berthold S, Stavrou C, Vollmer M, Burton C, Feest T, Krieter D, Gal A, Brandis M, Pierides A, Hildebrandt F
University Children's Hospital, Freiburg, Germany.
Nephrol Dial Transplant. 1998 Aug;13(8):1955-7. doi: 10.1093/ndt/13.8.1955.
Autosomal dominant medullary cystic kidney disease (ADMCKD; synonym: medullary cystic disease, MCD) is an autosomal dominant kidney disorder, sharing morphological and clinical features with recessive juvenile nephronophthisis (NPH), such as reduced urinary concentration ability and multiple renal cysts at the corticomedullary junction. While in NPH end-stage renal disease (ESRD) occurs in adolescence, ADMCKD leads to ESRD in adulthood. Recently a gene locus for ADMCKD has been localized to chromosome 1q21 in two large Cypriot families. This prompted us to examine linkage in three ADMCKD-families, using the same set of polymorphic microsatellite markers spanning the critical region on chromosome 1q21. Haplotype analysis revealed that none of the three families showed linkage to this locus, thus demonstrating evidence for genetic locus heterogeneity. Additional linkage analysis studies need to be performed in order to identify further gene loci cosegregating with this autosomal dominant kidney disorder.
常染色体显性遗传性髓质囊性肾病（ADMCKD；同义词：髓质囊性疾病，MCD）是一种常染色体显性遗传性肾脏疾病，与隐性青少年肾单位肾痨（NPH）具有形态学和临床特征，如尿浓缩能力降低和皮质髓质交界处多个肾囊肿。虽然NPH在青春期出现终末期肾病（ESRD），但ADMCKD在成年期导致ESRD。最近，在两个大型塞浦路斯家族中，ADMCKD的一个基因座已定位到1号染色体q21区域。这促使我们使用跨越1号染色体q21关键区域的同一组多态性微卫星标记，对三个ADMCKD家族进行连锁分析。单倍型分析显示，这三个家族中没有一个与该基因座连锁，从而证明了基因座异质性。需要进行更多的连锁分析研究，以确定与这种常染色体显性遗传性肾脏疾病共分离的其他基因座。
