Details

Autor(en) / Beteiligte

• Tan, Hang-Jing
• Jian, Wen-Yan
• Lv, Chao
• Guo, De-Wei
• Liao, Zheng-Chang
• Xu, Hui
• Xiao, Yao
• Schiller, Martin
• Zhuo, Jia-Long
• Yue, Shao-Jie
• Yao, Ruo-Jin
• Deng, Hong-Wen
• Xiao, Hong-Mei

Titel

Prenatal diagnosis and treatment for fetal angiotensin converting enzyme deficiency

Ist Teil von

• Prenatal diagnosis, 2024-02, Vol.44 (2), p.167-171

Ort / Verlag

England: Wiley Subscription Services, Inc

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• To elucidate an etiology in a case with persistent oligohydramnios by prenatal diagnosis and actively treat the case to achieve good prognosis. We performed whole exome sequencing (WES) of DNA from the fetus and parents. Serial amnioinfusions were conducted until birth. Pressors were required to maintain normal blood pressure. The infant angiotensin-converting enzyme (ACE) activity, angiotensin II (Ang II, a downstream product of ACE), and compensatory enzymes (CEs) activities were measured. Compensatory enzyme activities in plasma from age-matched healthy controls were also detected. We identified a fetus with a severe ACE mutation prenatally. The infant was born prematurely without pulmonary dysplasia. Hypotension and anuria resolved spontaneously. He had almost no ACE activity, but his Ang II level and CE activity exceeded the upper limit of the normal range and the upper limit of the 95% confidence interval of controls, respectively. His renal function also largely recovered. Fetuses with ACE mutations can be diagnosed prenatally through WES. Serial amnioinfusion permits the continuation of pregnancy in fetal ACE deficiency. Compensatory enzymes for defective ACE appeared postnatally. Renal function may be spared by preterm delivery; furthermore, for postnatal vasopressor therapy to begin, improving renal perfusion pressure before nephrogenesis has been completed.