Autosomal Recessive Polycystic Kidney (ARPKD) with cavernous transformation of portal vein

Amuthakani

Nursing supervisor, Kauvery Hospital, Tirunelveli, Tamil Nadu

ARPKD/CHD is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. It has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow up. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHD patients allows detailed definition of the extend of kidney and hepatobiliary manifestations without ionizing radiation and contrast agents.

Keywords: Autosomal recessive polycystic kidney disease, congenital hepatic fibrosis, US, MR cholangiography.

Introduction

Autosomal recessive polycystic kidney disease/congenital hepatic fibrosis (ARPKD/CHF) is an inherited hepatorenal fibrocystic disease with an estimated frequency of 1 in 20,000 live births. It is characterized by non-obstructive fusiform dilations of the renal collecting ducts resulting in enlarged spongiform kidneys and ductal plate malformation of the liver leading to CHF/Caroli syndrome. Most patients with ARPKD/CHF present prenatally with oligohydramnios caused by decreased fetal urine output and related hypo plastic lungs, but others present later in life when the clinical symptomatology is dominated by either renal failure

Case Presentation

A 5-year-old boy, presented with the complaints of 2-3 episode of hematemesis on 21.06.2025 night followed by two episodes by next morning. Initially treated outside with blood transfusion on 22.06.2025 outside private hospital and referred further for the evaluation and treatment History collection.

He is being identified to have an Autosomal recessive disease when he was 1 and half year when he developed hematemesis, increased abdominal girth and was confirmed with USG abdomen. On referral USG abdomen pelvis Doppler revealed

Cavernous transformation of the portal vein
ARPKD
Moderate splenomegaly
Umbilical Hernia A

Birth History: LSCS Indication: Failure to process normal labor. Birth weight- 3.95kgs. Baby cried immediately after birth Apgar score reported to be good. Patient Known case: Adult polycystic kidney Disease present with hematemesis.

Referred for evaluation under endoscopic Identified to develop Cavernous transformation of portal vein. Child has undergone blood transfusion previously. Outside hospital. 300ml BPOS

Procedure planned

Plan: Endoscopic Endotherapy Banding

Report Findings

Left kidney is enlarged in size. Left kidney measures 5.8/6/1/1/12 cm LP/transverse/CC. Well-defined diffuse hypo densities are seen involving the cortex and medulla of right kidney with loss of cortico-medullary differentiation and compressing the renal sinus fat.

Past medical History

He is a known case of Autosomal recessive polycystic kidney disease
Umbilical Hernia

USG Abdomen – Outside

Impression: Autosomal Recessive Polycystic kidney disease

Course of treatment

Baseline blood investigation shown

Hb	7.8g/dl	Anemia
Sodium	3.06	Hypokalemia
Total Protein	6.23	Hyperproteinemia
Albumin	3.46	Hypoalbuminemia
PT/INR	14.8/1.12
Peripheral Smear	Microcytic Hypochromic anemia wild mild eosinophilia
Blood group	B +ve
BT/CT	3.30/4.45
Urea	32.9
Creatinine	0.68

Course of medicine

Drugs	Dosage
IVF – DNS	1250 ml/24hours
Inj. Cefotaxim	700mg BD
Inj. Pantocid	15mg IV OD
Inj. Emeset	1.5mg IV OD
Syp. Citralxa 5ml	5 ml in 1 cup of water TDS

Endoscopy

Impression: Grade 3-4 Oesophageal varices with red signs/portal hypertensive gastropathy/Plan EVI.

Procedure

Banding done

Large oesophageal varies with resigns/Endoscopic variceal Ligation done. 4.0 band applied

The child condition improved thus planned for the discharge process.

Discharge Medicine

Drugs	Dosage
Syp. Citralxa 5ml	3.5 ml in 1 cup of water BD × 5days
Syp. Mucolite	5ml BD x 5days
T. Lanzol Junior 1/2hr	15mg (Before food)1-0-0
Syp. Zincofer 5mg/kg/d)	5ml OD

Discussion

ARPKD has an estimated incidence of 1 in 20,000 to 40,000 live births this means it is a relatively rare genetic disorder. The condition is characterized by the development of cysts in the kidneys and liver, often leading to kidney failure and liver disease. While it is more common in infants and children, some cases can present later in life. In India, specific epidemiological data on ARPKD prevalence is limited, but studies on Chronic Kidney Disease (CKD) prevalence in India show a wide range, from less than 1% to 21% in different regions, according to a 2021 review.

Kidney Manifestations

The majority of this cases are identifies late in pregnancy or at birth. Prenatal diagnosis is possible during the second or third trimester ultrasound (US) scan, although in the rare cases, it can be suspected as early as 15 weeks of gestation. The main prenatal ARPKD US findings include very large (>4 standard deviation), diffusely hyperechoic kidneys without corticomedullary differentiation with or without evident cyst (classical cysts tend to develop at birth) and oligohydramnios. The postnatal renal sonographic phenotype can be variable: kidney size may range from normal to massively enlarged, hyper echogenicity can be limited by the medulla or diffuse, and cysts can appear as ductal dilatation or as macro cysts of variable size, number, and location. However, the classic US appearance of ARPKD shows bilaterally enlarged kidneys with heterogeneous parenchymal echogenicity with a salt-and-pepper pattern (caused by multiple tiny barely detectable cysts, which disrupt the echo pattern without being clearly distinguishable). The salt-and-pepper pattern is mainly visible in children older than 6 years. In newborns with an established diagnosis of ARPKD, who did not require renal replacement therapy (RRT), there is a gradual increase of renal size. Glomerular filtration values may improve in the first year of life, which is associated with the maturation of renal function. In further observation, ARPKD results in progressive decrease of renal function to ESRD in 50% of patients, usually in the first decade of life. The risk factors for early dialysis dependency include oligohydramnios/anhydramnios, kidney enlargement, renal cysts on prenatal US, as well as low Apgar scores and the need for assisted breathing or ventilation. Treatment for CTPV often involves managing portal hypertension and its complications, such as variceal bleeding. This may include endoscopic procedures to stop bleeding, medications to reduce portal pressure, or in severe cases, shunts (TIPS or meso-Rex shunt) to reroute blood flow. The liver disease associated with ARPKD may also require management, and in some cases, liver transplantation may be considered.

What is Cavernous transformation of portal vein?

Cavernous transformation of the portal vein (CTPV) is a condition where the obstructed portal vein is replaced by a network of abnormal blood vessels, often leading to portal hypertension. While CTPV is commonly seen in children, it can also occur in adults. Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder primarily affecting the kidneys and liver, and it can also cause portal hypertension. Therefore, it is possible for a patient to have both CTPV and ARPKD, potentially with the liver disease associated with ARPKD contributing to the development of CTPV.

Fig (1): Illustration of cavernous transformation of the portal vein (PV).

Conclusion

In summary, while CTPV and ARPKD are distinct conditions, they can co-occur, and the liver disease associated with ARPKD can contribute to the development of CTPV. Understanding the connection between these conditions is crucial for appropriate diagnosis and management.

Autosomal Recessive Polycystic Kidney (ARPKD) with cavernous transformation of portal vein

Autosomal Recessive Polycystic Kidney (ARPKD) with cavernous transformation of portal vein

Amuthakani

Nightingale Journals