Mchaile Deborah, Mrindoko Philip, Mselle Matei, Meleki Elton, Kimambo Elise, Likiliwike Arnold, Lodhia Jay
Department of Paediatrics and Child Health, Kilimanjaro Christian Medical University College, Moshi, Tanzania.
Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, Moshi, Tanzania.
Pediatric Health Med Ther. 2020 Oct 29;11:445-448. doi: 10.2147/PHMT.S271209. eCollection 2020.
Polycystic kidney disease in neonates is a rare genetic disease which can be either autosomal dominant or autosomal recessive with each presenting at a certain period in life. They can both be diagnosed before or after birth using fetal ultrasound. This is a case of a five-hour-old baby with suspected polycystic kidney disease in a tertiary hospital in northern Tanzania.
We present a case of a five-hour-old female baby referred to us with a complaint of non-progressive abdominal distension since birth. The birth weight was 2.4 kilograms with a good APGAR score. Clinically, the baby had palpable kidneys bilaterally, widened anterior fontanelle communicating with the posterior as well as rocker bottom feet. Her abdominal ultrasound showed bilaterally enlarged echogenic kidneys with loss of cortico-medullary differentiation and multiple tiny cystic spaces. An echocardiogram showed patent ductus arteriosus and moderate tricuspid regurgitation with mild pulmonary regurgitation. The patient was started on medication but unfortunately on day two post admission the baby succumbed.
Neonatal polycystic kidney disease is associated with high morbidity and mortality rates. It may not be as rare as previously reported. Minimal to no awareness exists on the condition or its effects in our setup due to underdiagnosis and neither availability of neonatal screening nor availability of genetic analysis. It is likely underdiagnosed due to a lack of skills in fetal ultrasounds and no neonatal ICU to care for these babies. Increased awareness will increase the index of suspicion. This is the first case report in our setup highlighting this condition.
新生儿多囊肾病是一种罕见的遗传性疾病，可分为常染色体显性或隐性，每种类型在生命的特定时期出现。可在出生前或出生后通过胎儿超声进行诊断。这是坦桑尼亚北部一家三级医院收治的一名出生5小时、疑似患有多囊肾病的婴儿病例。
我们报告一例出生5小时的女婴，自出生以来因非进行性腹胀被转诊至我院。出生体重2.4千克，阿氏评分良好。临床上，双侧可触及肾脏，前囟门增宽并与后囟相通，还有摇椅底足。腹部超声显示双侧肾脏增大、回声增强，皮质-髓质分界不清，并有多个微小囊腔。超声心动图显示动脉导管未闭、中度三尖瓣反流伴轻度肺动脉反流。患者开始接受药物治疗，但不幸的是，入院第二天婴儿死亡。
新生儿多囊肾病与高发病率和死亡率相关。它可能不像之前报道的那么罕见。由于诊断不足，以及缺乏新生儿筛查和基因分析，在我们的医疗环境中，对该疾病及其影响的认识微乎其微。由于缺乏胎儿超声检查技能且没有新生儿重症监护病房来照顾这些婴儿，该病很可能未得到充分诊断。提高认识将增加怀疑指数。这是我们医疗环境中首例突出该疾病的病例报告。
