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Department of Pediatrics University of Padova Padova, Italy
Giovanni XXIII Hospital Bari, Italy
ABSTRACT
INTRODUCTION
CASE REPORTS
DISCUSSION
ABBREVIATIONS
REFERENCES
ABSTRACT 
We report the clinical and morphological features of an unusual hepatorenal disorder in 2 patients. The main clinical features were early onset of cholestatic liver disease and progressive tubulointerstitial nephritis, leading to renal death in early childhood. Renal histology showed interstitial fibrosis, tubular atrophy and dilatation, glomerular cysts in the cortex and periglomerular fibrosis; liver histology was characterized by portal fibrosis and bile duct abnormalities. Evaluating the 12 patients published in the literature, the long-term prognosis of the liver function appears bad, suggesting the possibility of a combined liver and kidney transplantation.
Key words: cholestasis, tubulointerstitial nephritis, end-stage renal disease, liver and kidney transplantation, childhood.INTRODUCTION
The association between congenital hepatic and renal disease is intriguing and sometimes poses a difficult interpretation for the physician. Autosomal recessive polycystic kidney disease (AR-PKD) and nephronophthisis (NPH) are the renal problems known to be associated with liver disease.1,2 There are instead situations in which the clinical picture poses numerous nosologic problems, and even the pathologic features are lacking the typical elements for a specific diagnosis. Furthermore, as kidney transplantation is necessary for these patients, the physician also has to face the long-term prognosis of the liver function, especially if a precise knowledge of the underlying disease is lacking.
We describe 2 children with an unusual hepatorenal disease and early end-stage renal insufficiency. We also review the data of 12 children from the literature3 with an associated early renal death and cholestatic liver disease and discuss the role of a combined liver and kidney transplant in these patients.
CASE REPORTS
Case 1
The patient is the product of a full-term, uncomplicated pregnancy and delivery. He is the second child of unrelated, healthy parents; there is no family history of renal or liver disease. His weight has always been below the third centile. At the age of 19 months, blood biochemistry was performed because of the mother's positivity for hepatitis B surface antigen, and it showed a mild anemia and increased values of aspartate aminotransferase (AST), alanine aminotransferase (ALT), and gamma glutamyl transferase (GGT) (Table 1); plasma urea and creatinine concentrations were 30 and 0.6 mg/dL (10.7 mmol/L and 53 µmol/L), respectively. At the age of 2.5 years, he was referred to our hospital because of the biochemical features of advanced renal failure, with severe edema and circulatory overload, marked anemia, hypertension, oligoanuria, and metabolic acidosis. The patient had been apparently well and active until 2 weeks earlier, when he experienced a flu-like symptomatology and a few days before admission his breathing became labored. Laboratory studies, performed on the day of admission, confirmed severe renal failure and showed moderate hepatocytolysis (AST and ALT were twice the normal values), and cholestasis (high plasma values of GGT and alkaline phosphatase (ALP), mild hypercholesterolemia without hyperbilirubinemia), [Table 1]. Coagulative tests have always been normal. Serologic markers for hepatitis viruses (A, B, and C) were negative. Normal values of
-1 antitrypsin, alphafetoprotein, cupremia, ceruloplasmin, and plasma ammonium, excluded the coexistence of the most common liver diseases. Ocular evaluation excluded retinal
involvement. Renal ultrasound showed small kidneys with homogeneous
echogenicity and loss of corticomedullary differentiation. Renal biopsy
(Fig 1), performed during initial admission,
showed interstitial fibrosis and diffuse inflammatory infiltrate,
tubular atrophy and dilatations, some glomeruli with cystic dilatation and others jalinized with periglomerular fibrosis. Immunofluorescence was negative. Chronic peritoneal dialysis was started on the day of
admission. On ultrasound, liver was increased in volume with regular
echostructure. Liver biopsy showed severe portal fibrosis with small
bile duct proliferation and without inflammatory cell infiltration (Fig
2). At the age of 3.5 years, severe itching developed and was associated with an increased concentration of serum
total bile acids. Cholestyramine treatment was not beneficial, whereas
ursodesossicholic acid markedly reduced the symptomatology. A
hepatobiliary scintigraphy (with TC 99M Disida) was
performed and confirmed mild intrahepatic cholestasis. This examination
showed a worsening of cholestasis 3 years later. The patient is now 6 years old and is maintained by chronic peritoneal dialysis. He has
hepatomegaly (5 cm below right costal margin) without clinical signs of
portal hypertension. Liver tests are reported in Table 1.
|
Table 1. Summary of Laboratory Data |
Case 2
The patient is the product of a full-term uncomplicated pregnancy. He has no family history of renal or liver disease. The child had been apparently well until the age of 4.5 years, when polyuria, polydipsia, and ingravescent pallor developed. He was first hospitalized in another hospital where laboratory data were consistent with severe renal failure and cholestatic liver disease (high plasma values of GGT and ALP and moderate increase of serum total bile acids and cholesterol), with hepatocytolysis (Table 1). After 1 month of conservative treatment, he was started on chronic peritoneal dialysis. When he was referred to our hospital at the age of 5.5 years, he was in poor general condition, had severe and diffuse itching, and hypertension was not controlled by the usual treatment. Liver tests are reported in Table 1. Blood tests of coagulation, ammoniemia, ceruloplasmin, cupremia, and-1 antitrypsin were within normal
ranges. Serologic markers for hepatitis viruses were negative.
Ultrasound images showed two kidneys at the inferior limit of normal
range, with loss of corticomedullary differentiation and diffuse
hyperechogenic structure; the liver had a normal size, morphology, and
echo structure.
DISCUSSION
Table 2.
Clinical and Laboratory Data on Patients From the Literature and on Our
Two Patients
FOOTNOTES
Received for publication Aug 20, 1996; accepted Mar 6, 1997.
Reprint requests to (G.M.) Dipartimento di Pediatria, Università degli studi, Via Giustiniani 3, 35128 Padova, Italy.
ABBREVIATIONS
AR-PKD, autosomal recessive polycystic kidney disease. NPH, nephronophthisis. AST, aspartate aminotransferase. ALT, alanine aminotransferase. GGT, gamma glutamyl transferase. ALP, alkaline phosphatase. ESRF, end-stage renal failure.
REFERENCES
a family study.
Q J Med
1973;
42:221-233
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