Balkan Journal of Medical Genetics

CONGENITAL HEPATIC FIBROSIS AS AN EARLY SIGN OF PRESENTATION OF ADPKD
Sila L.1, Velmishi V.2,*, Saraci B.3, Dervishi E.2, Sila S.4, Shtiza D.5, Cullufi P.2
*Corresponding Author: PhD Virtut Velmishi, Work address: Pediatric department; Dibra Street Nr 372, Tirana - Albania, e-mail: tutimodh@yahoo.com
page: 91

CASE REPORT

An 8-year-old boy was referred to our service of pediatric gastro hepatology with hepatosplenomegaly having a 6 year duration without a clear diagnosis. At the age of two, he presented easy bruising over the lower limbs. At the same time was found that he had thrombocytopenia and mild hepatosplenomegaly, demonstrated also by an abdominal ultrasound. He was the third boy of an Albanian couple without consanguinity. According to his mother the pregnancy was normal and delivery was by a cesarian section. The neonatal period was uneventful. He was vaccinated according to our national schedule. No history of other diseases appeared until he reached two years old. This is when the first presentations were some bruising on legs and mild hepatosplenomegaly. During frequent hospitalizations, autoimmune hepatitis was excluded along with, viral hepatitis (Cytomegalovirus, Epstein-Barr virus, TORCH), metabolic disease like Gaucher (dry blood spot test), and alpha-1 antitrypsin deficiency. Furthermore, a bone marrow examination showed normal marrow with no evidence for any pathology. At the age of six, an ultrasound confirmed a hepatosplenomegaly meanwhile a liver elastography showed fibrosis at stage F2. An enlarged liver and spleen were found during an abdominal exam, both of which were located 4 to 5 cm under the costal margin. Following admission, laboratory results indicated PT 90% , RBC = 3.85 X 106/μL, Hb 9.2 g/L and platelet count of 77 k/uL. His liver function tests were normal and his serum ferritin level was also in the normal range. The last abdominal ultrasound demonstrated an enlarged liver and spleen (liver right lobe 130 mm; left lobe 110mm; caudate lobe 40mm, and spleen with dimension 125mm). Doppler image revealed the presence of esophageal varices. An upper endoscopy confirmed the presence of grade 1 esophageal varices (see Figure 1). Serial abdominal ultrasonography were done, but only the last one revealed the presence of numerous millimetric cysts on both kidneys. There were some cysts at the right kidney reaching 9.2 mm in diameter (see Figure 2). It was at this point that the family’s history of polycystic kidney disease was noticed. The paternal grandmother died of renal disease of unknown cause. His paternal aunt continues hemodialysis and is known to have polycystic kidney disease. Thus, in this context we decided to screen all family members by abdominal ultrasound. The patient’s father, and the patient’s brothers even though asymptomatic, demonstrated several bilateral renal cysts, while the liver had a normal morphology(see Figure 3). ADKPD was suspected, based on the pedigree of the family(see Figure 4). A liver biopsy was indicated for the patient. In the histopathologic evaluation, the parenchyma of the tissue was divided into lobules by severe fibrosis of the portal tracts and several bile ducts with irregular shapes. The results supported the diagnosis of congenital hepatic fibrosis. A genetic test (whole exome sequencing) was performed and the results confirmed the diagnosis of Autosomal Dominant Polycystic kidney disease Type 1. A heterozygous pathogenic variant was identified in the PKD1 gene. The PDK1 variant c.6730_673del p.(Ser2244Hisfs* 17) creates a shift in the reading frame starting at codon 2244. The new reading frame ends in a stop codon 16 position downstream. This variant was confirmed by Sanger sequencing. Further studies with cranial magnetic resonance angiography and echocardiography did not reveal any other abnormality. Currently, the patient is 8 years old and is generally healthy. His liver function results as INR, albumin and transaminase are normal but platelets count remain low. He needs routine endoscopic evaluation of the progression of portal hypertension and varices bleeding.

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