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CLINICAL IMAGES Table of Contents  
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Ultrasound diagnosis of the perinatal form of autosomal recessive polycystic kidney disease at 29 weeks of gestation


 Department of Radiology, St. John's Hospital, Bengaluru, Karnataka, India

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Date of Submission18-Mar-2022
Date of Decision06-Oct-2022
Date of Acceptance10-Oct-2022
Date of Web Publication01-Nov-2022
 


How to cite this URL:
Reddy R. Ultrasound diagnosis of the perinatal form of autosomal recessive polycystic kidney disease at 29 weeks of gestation. Apollo Med [Epub ahead of print] [cited 2022 Nov 28]. Available from: https://apollomedicine.org/preprintarticle.asp?id=360162





  Description Top


A 30-year-old primigravida from a rural background presented to the hospital at 29 weeks of gestation. The patient is from low socioeconomic strata and has not been on regular antenatal visits. Their family history was unremarkable. She was referred for an antenatal ultrasound for a fetal profile which demonstrated an increased abdominal circumference of 33 weeks of gestation as compared to other fetal parameters, which were consistent with the growth equivalent of 29 weeks of gestation. Bilateral kidneys were enlarged and echogenic and demonstrated loss of corticomedullary differentiation with multiple small-sized renal cysts replacing the renal parenchyma [Figure 1]. Further, there were minimal hepatic fibrosis, moderate oligohydramnios, and right-sided pleural effusion [Figure 2]. Based on ultrasound findings, a diagnosis of the perinatal form of autosomal recessive polycystic kidney disease (ARPKD) was made. The parents were offered counseling regarding the same. However, the patient was diagnosed with intrauterine fetal demise at 36 weeks of gestation due to pulmonary insufficiency secondary to severe oligohydramnios and pulmonary hypoplasia.
Figure 1: Transverse prenatal ultrasound image at 29 weeks of gestation demonstrating bilateral enlarged echogenic kidneys with loss of corticomedullary differentiation and multiple small renal cysts replacing the renal parenchyma consistent with features of ARPKD. ARPKD: Autosomal recessive polycystic kidney disease

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Figure 2: Ultrasound demonstrates hepatomegaly with increased liver and periportal fibrosis echogenicity

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  Discussion Top


ARPKD presents late in the antenatal period or the early neonatal period in the majority of patients. Nevertheless, the condition is often missed on ultrasound in second-trimester scans as the microcysts of ARPKD or increased echogenicity of kidneys are overlooked; moreover, oligohydramnios may be the only feature until 5 months of gestation.[1] Neonates with ARPKD diagnosed during the perinatal period usually succumb to the disease during the first few days after birth due to respiratory insufficiency developing secondary to severe oligohydramnios and pulmonary hypoplasia.[2] ARPKD presentation in isolation is rare and often associated with congenital hepatic fibrosis. Caroli disease and Caroli syndrome are both characterized by saccular dilatation of intrahepatic bile ducts. Caroli syndrome has an association with ARPKD.[3] Nevertheless, hepatic fibrosis predominates in infantile and juvenile forms of ARPKD, and renal disease predominates in the perinatal form of ARPKD with resultant end-stage renal disease.

Declaration of patient consent

The authors certify that he has obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published, and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Acknowledgment

I wish to thank Mrs. Mani Sabbavarapu for her assistance in proofreading and native English editing of the manuscript.

Conflicts of interest

There are no conflicts of interest.

Financial support and sponsorship

Nil.

Author's contribution

Reddy Ravikanth (RR) wrote the first draft of the manuscript. RR reviewed, edited the manuscript and approved the final version of the manuscript.



 
  References Top

1.
Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: A hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics 2014;134:e833-45.  Back to cited text no. 1
    
2.
Erger F, Brüchle NO, Gembruch U, Zerres K. Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases. Arch Gynecol Obstet 2017;295:897-906.  Back to cited text no. 2
    
3.
Yao X, Ao W, Fang J, Mao G, Chen C, Yu L, et al. Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: A case report and literature review. BMC Pregnancy Childbirth 2021;21:294.  Back to cited text no. 3
    

Top
Correspondence Address:
Ravikanth Reddy,
Department of Radiology, St. John's Hospital, Bengaluru - 560 034, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/am.am_47_22



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