Hepatorenal fibrocystic diseases in children

Park, Eujin; Lee, Jiwon M.; Ahn, Yo Han; Kang, Hee Gyung; Ha, Ii Soo; Lee, Joo Hoon; Kim, Nayoung K.D.; Park, Woong-Yang; Cheong, Hae Ii

doi:10.1007/s00467-015-3185-4

Cited by 19 publications

(15 citation statements)

References 32 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…To date, more than 25 different genes have been found to be associated with NPHP (Table ) . Mutations in the NPHP1 gene are the most common, being reported in approximately 20% of cases.…”

Section: Genotype–phenotype Correlation Of Nphpmentioning

confidence: 99%

Nephronophthisis: A review of genotype–phenotype correlation

Luo

Tao

2018

Nephrology

View full text Add to dashboard Cite

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end‐stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%–20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.

show abstract

“…To date, more than 25 different genes have been found to be associated with NPHP (Table ) . Mutations in the NPHP1 gene are the most common, being reported in approximately 20% of cases.…”

Section: Genotype–phenotype Correlation Of Nphpmentioning

confidence: 99%

Nephronophthisis: A review of genotype–phenotype correlation

Luo

Tao

2018

Nephrology

View full text Add to dashboard Cite

show abstract

“…Renal failure is a common complication in patients with acute or chronic liver disease. In contrast to conditions with multiorgan involvement, like the Alagille Syndrome or metabolic disorders, most children with end-stage liver disease develop AKI secondary to the chronic liver disease they originated during infancy [11,12].…”

Section: E919717-7mentioning

confidence: 99%

Acute Kidney Injury and Renal Regional Oxygen Saturation During Pediatric Liver Transplantation

et al. 2020

View full text Add to dashboard Cite

Departmental sources Background:Kidney injury is a complication among children undergoing liver transplantation (pLTx). Cystatin C serum concentration seems to be superior to creatinine-based determination of kidney injury in adults and children. Nearinfrared spectroscopy (NIRS) technology provides non-invasive and real-time measurement of renal tissue oxygenation. Here, we compared renal tissue oximetry (rSrO 2 ) with conventional diagnostic criteria cystatin C and creatinine concentration in children undergoing pLTx. Material/Methods: rSrO 2 was measured intraoperatively in children undergoing pLTx over the left kidney, and was statistically compared with pre-and postoperative serum creatinine and cystatin C concentrations. Results:rSrO 2 was affected by hemoglobin concentration, bilirubin concentration, and FiO 2 . Statistical analysis demonstrated that rSrO 2 was significantly reduced in children with preoperative pathologic increased cystatin C concentrations compared to children without (63.7±4.3 vs. 53.4±4.9, p<0.05). We did not detect a significant difference in rSrO 2 between children who developed postoperative renal impairment, either determined by increased postoperative cystatin C concentration, creatinine concentration, or the pRIFLE criteria. Intraoperative increase or decrease in rSrO 2 did not predict the development of postoperative kidney injury. Conclusions:In children with liver failure undergoing pLTx, a preoperative decrease in rSrO 2 indicates compromised renal function. However, intraoperative rSrO 2 is not predictive of postoperative kidney injury.

show abstract

“…It can manifest insidiously, with patients presenting in two main ways: intrahepatic ductal ectasia and bile stagnation (i.e., recurrent cholangitis and/or cholangiolithiasis) or portal hypertension (i.e., hypersplenism, gastrointestinal bleeding, ascites) [5]. CS has also been reported in association with cystic renal disease, pancreatic cysts, cavernomatous transformation of the portal vein, and an increased risk of cholangiocarcinoma [6].…”

Section: Introductionmentioning

confidence: 99%

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

et al. 2020

View full text Add to dashboard Cite

Background Caroli syndrome (CS) is a rare congenital disorder without pathognomonic clinical symptoms or laboratory findings; therefore, the diagnosis is often delayed. The objective of this study was to investigate the diagnostic delay and associated risk factors in CS patients. Methods This was a retrospective analysis of 16 CS patients admitted to a single tertiary medical center on mainland China. The diagnostic timelines of CS patients were reviewed to demonstrate the initial findings of CS at diagnosis, the risk factors associated with diagnostic delay, and potential clues leading to early diagnosis. Results The median diagnostic delay was 1.75 years (range: 1 month to 29 years, interquartile range: 6.2 years) in 16 enrolled CS patients. Sex, age, and initial symptoms were not associated with diagnostic delay. 87.5% of CS patients were diagnosed by imaging, and the accuracies of ultrasonography, computed tomography (CT), and magnetic resonance cholangiopancreatography were 25, 69.2, and 83.3%, respectively. The median diagnostic delays for patients with or without CT performed at the first hospital visited according to physician and radiologist suspicion of the diagnosis were 7.4 months and 6 years, respectively (p = 0.021). Hepatic cysts with splenomegaly were detected by ultrasound in over half of CS patients. Conclusions The majority of CS patients were not diagnosed until complications of portal hypertension had already developed. Recognition and early suspicion of the disease were important factors influencing diagnostic delay of CS. Hepatic cysts plus splenomegaly detected by US might raise the clinical suspicion to include CS in the differential diagnosis.

show abstract

Hepatorenal fibrocystic diseases in children

Abstract: NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.

Cited by 19 publications

References 32 publications

Nephronophthisis: A review of genotype–phenotype correlation

Nephronophthisis: A review of genotype–phenotype correlation

Acute Kidney Injury and Renal Regional Oxygen Saturation During Pediatric Liver Transplantation

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study

Contact Info

Product

Resources

About