Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease

Lipschitz, Barry; Berdon, Walter E.; DeFelice, Amy R.; Levy, Joseph

doi:10.1007/bf02012406

Cited by 49 publications

(19 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In addition, she had biliary dysgenesis. While this biliary lesion is an invariant finding in ARPKD, it also has been reported in ADPKD infants [25,26]. Some might suggest that because ARPKD is distinctly uncommon in the African-American population, the diagnosis of ADPKD is more likely in this African-American child.…”

Section: Discussionmentioning

confidence: 85%

Diffuse renal cystic disease in children: morphologic and genetic correlations

Guay‐Woodford

Galliani

Musulman-Mroczek

et al. 1998

Pediatric Nephrology

View full text Add to dashboard Cite

During a 5-year period, we evaluated seven infants and two fetuses who presented with enlarged, hyperechoic kidneys. In each, the initial clinical diagnosis was autosomal recessive polycystic kidney disease (ARPKD). Among the seven unrelated infants were three Caucasian and four African-American infants. No syndromic stigmata were evident in any of these infants. At the time of the initial evaluation, the family data were incomplete for four infants. The two fetuses were presumed to be at-risk for ARPKD based on the diagnosis in previous siblings. Renal histopathology was evaluated in all nine cases and revealed a spectrum of cystic disease ranging from ARPKD to glomerulocystic kidney disease to autosomal dominant polycystic kidney disease to diffuse cystic dysplasia. In the eight cases for whom liver histopathology was available, varying degrees of biliary dysgenesis were evident. We present a detailed analysis of the key histopathological features in each case and discuss the histopathological findings in an embryological context. In addition, we address the current role of molecular genetics in the diagnostic evaluation.

show abstract

Section: Discussionmentioning

confidence: 85%

Diffuse renal cystic disease in children: morphologic and genetic correlations

Guay‐Woodford

Galliani

Musulman-Mroczek

et al. 1998

Pediatric Nephrology

View full text Add to dashboard Cite

show abstract

“…Rare cases of congenital hepatic fibrosis have been described in children with ADPKD. In those cases, portal hypertension and hypersplenism precede renal manifestations and often dominate the clinical picture [6].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD

Rizk

Chapman

2008

Pediatr Nephrol

View full text Add to dashboard Cite

Polycystic kidney disease (PKD) is the most common inherited renal disorder. Patients with PKD remain clinically asymptomatic for decades, while significant anatomic and physiologic systemic changes take place. Sequencing of the responsible genes and identification of their protein products have significantly expanded our understanding of the pathophysiology of PKD. The molecular basis for cystogenesis is being unraveled, leading to new targets for therapy and giving hope to millions of people suffering from PKD. This has direct implications for children with PKD with regard to screening for the disease and identification of high-risk individuals. In this article we provide a review of the clinical manifestations in children with autosomal dominant polycystic kidney disease (ADPKD), the genetic and molecular basis for the disease, and a concise review of potential therapies being evaluated.

show abstract

“…Diagnosis of ADPKD in this patient seems, although not genetically determined, definite based on family history, ultrasound, and clinical course (see Table 1). As liver fibrosis in ADPKD is reported in only a few patients worldwide [8,16,17], it seems unlikely that this patient represents one of the few ADPKD patients with fibrotic liver involvement. Nevertheless, clarification would require liver biopsy, which is not indicated at this time, or by long-term follow up.…”

Section: Discussionmentioning

confidence: 99%

“…However, these methods provide only low sensitivity, with characteristic findings usually not becoming apparent before late adolescence or early adulthood, whereas liver fibrosis is assumed to be present at birth [4]. Taken together, further noninvasive methods for early detection and serial monitoring of liver fibrosis would be helpful for managing ARPKD patients and differentiating between ARPKD and infantile ADPKD, in which fibrosis is reported only in rare cases [8]. This is particularly important for the pediatric population, in which noninvasive procedures should always be preferred.…”

Section: Introductionmentioning

confidence: 95%

Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection

et al. 2011

View full text Add to dashboard Cite

Cystic renal diseases are characterized by intrarenal cysts of different size and number. Further important diagnostic criteria include, e.g., liver fibrosis. The latter represents a significant cause of morbidity and mortality in autosomal-recessive polycystic kidney disease (ARPKD), whereas patients with autosomal-dominant polycystic kidney disease (ADPKD) can develop hepatic cysts without fibrosis. We report the use of transient elastography [FibroScan®, (FS)] for early and noninvasive detection of increased liver stiffness as marker of liver fibrosis. Compared with matched healthy controls, ADPKD patients (n = 7) showed no significant difference in liver stiffness (5.3 kPa vs. 4.5 kPa; ns). ARPKD patients (n = 7) had significantly increased median liver stiffness compared with controls (12.0 kPa vs. 4.5 kPa, p = 0.002) and ADPKD patients (12.0 kPa vs. 5.3 kPa, p = 0.002). Conventional ultrasound revealed evidence of liver fibrosis in only four of seven ARPKD patients (57%) compared with 100% detection by FS. Additional laboratory examinations showed no pathologic liver parameters. In conclusion, our data found FS to be a valuable, sensitive, and noninvasive new tool for early evaluation of liver fibrosis in cystic kidney diseases. This could facilitate diagnosis, monitoring, and management of liver involvement in ARPKD or any other cystic kidney disease.

show abstract

Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease

Cited by 49 publications

References 21 publications

Diffuse renal cystic disease in children: morphologic and genetic correlations

Diffuse renal cystic disease in children: morphologic and genetic correlations

Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD

Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection

Contact Info

Product

Resources

About