Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Majeed, Nehna Abdul; Font–Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Veppumthara, Peter; Choyke, Peter L.; Türkbey, İsmail Barış; Heller, Theo; Gahl, William A.; Gunay‐Aygun, Meral

doi:10.1016/j.ymgme.2020.08.006

Cited by 18 publications

(6 citation statements)

References 27 publications

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“…The LTA and SLKT cohorts received LT at median ages of 18 and 19, respectively, comparable to the age at LT for this condition reported in prior studies [15]. The majority of paediatric SLKT and LTA recipients were transplanted with exception points, emphasizing again that the mechanism of hepatic decompensation is not primary synthetic insufficiency captured by our current MELD/PELD scoring system.…”

Section: Discussionmentioning

confidence: 78%

“…Patients with dual organ failure may require both liver and kidney transplantation with variable timing and sequence [11]. Given the condition’s heterogeneity and rarity, studies describing its treatment and outcomes are limited to primarily case reports, case series and small cohort studies [2,12–17]. Outcomes following liver transplantation alone (LTA) or SLKT in patients with CHF have not yet been investigated in a larger cohort.…”

Section: Introductionmentioning

confidence: 99%

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Liver transplantation for congenital hepatic fibrosis

Ziogas

Izzy

et al. 2021

Transpl Int

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Congenital hepatic fibrosis (CHF) is a hereditary fibrocystic disease that can progress to portal hypertension and recurrent cholangitis requiring liver transplantation (LT). It can be associated with renal pathology and need for kidney transplantation (KT). We describe the clinical characteristics and outcomes of patients undergoing liver transplantation alone (LTA) and simultaneous liver-kidney transplantation (SLKT) for CHF using the Unites States Scientific Registry of Transplant Recipients. A total of 197 patients who received LT for CHF between 2002 and 2018 were identified -87 (44.2%) received SLKT, 110 (55.8%) received LTA. The 1-, 3-and 5year patient survival were 99.0%, 96.2% and 94.6%. The 1-, 3-and 5-year liver graft survival were 94.9%, 91.1% and 89.6%. No significant differences in patient or liver graft survival were observed between the SLKT and LTA groups, or between paediatric and adult recipients. 53.3% of patients with CHF necessitating LT also have significant renal disease requiring KT. Kidney graft survival for isolated KT prior to LT were poorer compared with KT performed simultaneously or after LT. Both LTA and SLKT for CHF are associated with excellent long-term outcomes in paediatric and adult patients.

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Section: Discussionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 99%

Liver transplantation for congenital hepatic fibrosis

Ziogas

Izzy

et al. 2021

Transpl Int

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“…Previous studies have stated that the longitudinal lengths of the liver, spleen, and kidney correlate most with body parameters [ 19 , 23 ]. Our study was concordant with these findings.…”

Section: Discussionmentioning

confidence: 99%

Ultrasound Assessment of the Relevance of Liver, Spleen, and Kidney Dimensions with Body Parameters in Adolescents

Huang

Zheng

Zhang

et al. 2022

Computational and Mathematical Methods in Medicine

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Objective. Ultrasound is a practical imaging modality for screening and identification of anomalies in the organs. This study used ultrasonography to examine the association between body parameters and dimensions of the normal liver, spleen, and kidney in adolescents based on ultrasound examination results. Methods. A total of 300 junior and senior high school teenagers receiving routine health check-ups in our hospital from January 2020 to January 2021 were included. Their height and weight were measured, and their body surface area (BSA) and body mass index (BMI) were calculated. Ultrasound imaging was employed to obtain information such as the length and volume of the liver, gallbladder, spleen, and kidney. Besides, the correlation of body parameters such as gender, age, height, weight, BSA, and BMI with visceral dimension was investigated using the Pearson test and multiple regression analysis, respectively. Results. We observed that the abdominal organs of adolescents were enlarged with age. The span and volume of the liver and the length and volume of the right kidney were significantly larger in boys than in girls. The age, BSA, and BMI were positively correlated with the liver span and spleen length, as well as the left and right kidney lengths. Additionally, age, BSA, and BMI were identified as important predictors for dimensions of the spleen, liver, and kidney. Conclusions. Body parameters are notably associated with the dimensions of the liver, spleen, and kidney and could be utilized as predicting factors for the liver, spleen, and kidney dimensions.

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“…Interestingly, the NCPH is common in cystic fibrosis-associated liver disease ( Boëlle et al, 2019 ). Therefore, we speculate that liver disease in multiple renal cysts (MRC) present as NCPH, except for a subset of patients with ciliopathy affected by hepatorenal fibrocystic diseases (HFDs), such as autosomal recessive polycystic kidney disease (ARPKD) or Caroli syndrome ( Abdul Majeed et al, 2020 ; McConnachie et al, 2021 ). HFDs are a group of ciliopathies and genetic disorders that involve developmental abnormalities in the portobiliary system in association with fibrocystic degeneration of the kidney ( Lasagni et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing

Liu

et al. 2021

Front. Genet.

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Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy. However, the potential genetic influencers and/or determinants in NCPH with MRC are largely unknown. The aim of this study was to explore the potential candidate variants/genes associated with those patients.Methods: 8,295 cirrhotic patients with portal hypertension were enrolled in cohort 1 and 267 patients affected with NCPH were included in cohort 2. MRC was defined as at least two cysts in both kidneys within a patient detected by ultrasonography or computed tomography. Whole-genome sequencing (WGS) was performed in nine patients (four from cohort 1 and five from cohort 2). Then we integrated WGS and publicly available single-cell RNA sequencing (scRNA-seq) to prioritize potential candidate genes. Genes co-expressed with known pathogenic genes within same cell types were likely associated NCPH with MRC.Results: The prevalence of MRC in NCPH patients (19.5%, 52/267) was significantly higher than cirrhotic patients (6.2%, 513/8,295). Further, the clinical characteristics of NCPH patients with MRC were distinguishable from cirrhotic patients, including late-onset, more prominent portal hypertension however having preserved liver functions. In the nine whole genome sequenced patients, we identified three patients with early onset harboring compound rare putative pathogenic variants in the known disease gene PKHD1. For the remaining patients, by assessing cilia genes profile in kidney and liver scRNA-seq data, we identified CRB3 was the most co-expressed gene with PKHD1 that highly expressed in ureteric bud cell, kidney stromal cell and hepatoblasts. Moreover, we found a homozygous variant, CRB3 p.P114L, that caused conformational changes in the evolutional conserved domain, which may associate with NCPH with MRC.Conclusion: ScRNA-seq enables unravelling cell heterogeneity with cell specific gene expression across multiple tissues. With the boosting public accessible scRNA-seq data, we believe our proposed analytical strategy would effectively help disease risk gene identification.

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Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Cited by 18 publications

References 27 publications

Liver transplantation for congenital hepatic fibrosis

Liver transplantation for congenital hepatic fibrosis

Ultrasound Assessment of the Relevance of Liver, Spleen, and Kidney Dimensions with Body Parameters in Adolescents

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing

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