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| CASE IN POINT: NEONATAL IMAGING |
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| Year : 2015 | Volume
: 2
| Issue : 1 | Page : 36-37 |
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Imaging features in neonatal autosomal recessive polycystic kidney disease
Manish Kumar, Yatish Agarwal, Brij Bhushan Thukral
Department of Diagnostic Radiology, Safdarjung Hospital, New Delhi, India
| Date of Web Publication | 26-Oct-2015 |
Correspondence Address:
Dr. Manish Kumar
Department of Diagnostic Radiology, Safdarjung Hospital, New Delhi - 110 029
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2349-0977.168250
How to cite this article:
Kumar M, Agarwal Y, Thukral BB. Imaging features in neonatal autosomal recessive polycystic kidney disease. Astrocyte 2015;2:36-7 |
We wish to highlight the imaging features of neonatal autosomal recessive polycystic kidney disease diagnosed in the antenatal period and confirmed on day 1 of birth.
The mother, 20-year-old female, was referred for an antenatal ultrasound (USG) on the previous evening before she gave birth. Her obstetric USG revealed the presence of a severe oligohydramnios and bilateral enlarged echogenic fetal kidneys. Based on these findings, we proffered a diagnosis of autosomal recessive polycystic kidney disease.
Following the birth of the baby the next morning, her chest X-ray, neonatal routine and high resolution USG, and magnetic resonance imaging (MRI) abdomen were done. Vital parameters of the neonate were stable.
The chest X-ray showed bilateral normal expanded lungs, without any features of pulmonary hypoplasia [Figure 1]. Neonatal USG carried out with 5-MHz transducer confirmed the presence of bilateral enlarged echogenic kidneys [Figure 2]]. On high resolution USG, performed with 14-MHz transducer, renal medulla was found to be replaced bilaterally with multiple cylindrical microcysts compressing the renal cortex [Figure 3]. | Figure 1: X-ray chest and abdomen of the neonate on day 1 of birth. Soft tissue masses are present in both flanks displacing the small bowel loops centrally. Lungs are normal.
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 | Figure 2: (a and b) Neonatal ultrasound scan on day 1 of birth. Both kidneys are markedly enlarged and echogenic.
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 | Figure 3: (a and b) Neonatal high-resolution ultrasound scan on day 1 of birth. Multiple tiny cylindrical cysts can be seen replacing the renal medulla. Few larger cysts are also present. The renal cortex is compressed into a thin rim.
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MRI abdomen demonstrated bilateral enlarged kidneys which were markedly hyperintense on T2-weighted sections. The reniform shape of the kidneys was well-preserved [Figure 4]. No changes of congenital hepatic fibrosis were, however, found [Figure 5]. | Figure 4: Coronal (a) and axial T2-weighted (b) magnetic resonance imaging scans of the neonate on day 1 of birth. Both kidneys are markedly enlarged and hyperintense. T1-weighted (c) magnetic resonance imaging demonstrates the enlarged kidneys to be hypointense.
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 | Figure 5: Ultrasound scan (a) and T2-weighted magnetic resonance imaging scan of the liver (b) on day 1of birth showing normal hepatic parenchyma.
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| Discussion | |  |
A common heritable cystic renal disease occurring in infancy and childhood, the prevalence of autosomal recessive polycystic kidney disease (ARPKD) has been reported variously to be between 1 in 6000 and 1 in 55,000 births.[1],[2] This bilaterally symmetrical disorder occurs due to abnormal regulation of proliferation and differentiation of renal and biliary tract epithelial cells which results in a nonobstructive collecting duct ectasia. The collecting ducts become dilated, renal interstitium suffers fibrosis, and if these processes are severe, renal function becomes impaired with end-stage renal disease being the usual outcome.
Patients with ARPKD may also have hepatic involvement in the form of abnormal biliary ducts and portal tracts. Expansion of portal tracts occurs due to ductal plate malformation with an increased number of dilated bile ductules in an expanded fibrous connective tissue resulting in congenital hepatic fibrosis (CHF). However, CHF is not pathognomonic of ARPKD; it may accompany Meckel–Gruber syndrome, vaginal atresia, tuberous sclerosis, nephronophthisis, and rarely, autosomal dominant polycystic kidney disease.[3] Quixotically, renal and hepatic affection is inversely proportional.
Until some years ago, the entity of ARPKD was classified into four distinct groups—perinatal, neonatal, infantile, and juvenile based on the age of presentation, renal size, clinical course, and severity of collecting duct dilatation. The most severe being the perinatal type with nearly 90% ductal involvement and mostly fatal by 1 week of age. This classification, however, is no longer in vogue; ARPKD is currently thought to be a spectrum of kidney and liver disease of varying severity.
Severe disease in utero may lead to renal functional impairment in the fetus with resultant decreased urinary output and oligohydramnios. The oligohydramnios as well as the massively enlarged kidneys compress the developing lung leading to pulmonary hypoplasia. Most such infants die from pulmonary dysfunction shortly after birth. Oligohydramnios can also result in typical Potter facies, low-set and flattened ears, short and snubbed nose, deep eye creases, and micrognathia.
With milder renal disease, renal function impairment is less severe. These patients may present with progressive hepatic fibrosis and the development of portal hypertension at a later age. Most of the patients presenting with hepatic disease get diagnosed during adolescence or early adulthood, however, the period may range from early childhood to 6th decade of life.[4],[5]
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Bosniak MA, Ambos MA. Polycystic kidney disease. Semin Roentgenol 1975;10:133-43.  [ PUBMED] |
| 2. | Potter E. Normal and Abnormal Development of the Kidney. Chicago, III: Year Book Medical; 1972. p. 6-112. |
| 3. | Lonergan GJ, Rice RR, Suarez ES. Autosomal recessive polycystic kidney disease: Radiologic-pathologic correlation. Radiographics 2000;20:837-55. |
| 4. | De Vos M, Barbier F, Cuvelier C. Congenital hepatic fibrosis. J Hepatol 1988;6:222-8. |
| 5. | Brancatelli G, Federle MP, Vilgrain V, Vullierme MP, Marin D, Lagalla R: Fibropolycystic Liver Disease: CT and MR Imaging Findings: Radio Graphics 2005; 25:659-670. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
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