Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis

作者：Hussein Kais^*; Steinemann Doris; Scholz Henrike; Menkhaus Ralf; Feist Henning; Kreipe Hans

来源：International Journal of Clinical and Experimental Pathology, 2010, 3(7): 723-729.

• Array-CGH
• quantitative PCR
• bilateral hypoplasia of the lung
• unilateral renal agenesis

We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys.

• 出版日期2010