Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease

Kataoka, Hiroshi; Watanabe, Saki; Sato, Masayo; Manabe, Shun; Makabe, Shiho; Akihisa, Taro; Ushio, Yusuke; Iwasa, Naomi; Yoshida, Rie; Tsuchiya, Ken; Nitta, Kosaku; Mochizuki, Toshio

doi:10.1007/s12072-021-10176-9

Cited by 15 publications

(10 citation statements)

References 29 publications

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“…Recently, maximum cyst diameter has been proposed as prognostic parameter for ADPKD-associated PLD. 30 Indeed, correlation of MCD with hTLV and clinical outcomes supports utilization of MCD as prognostic marker in ADPLD as well. Still, we did not find significant prognostic differences in genetically confirmed ADPKD and ADPLD patients in terms of clinical endpoints such as LTx and PLD-related hospitalization.…”

Section: Clinical Similarities Between Adpld and Adpkd-associated Pldmentioning

confidence: 88%

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

Sierks¹,

Schönauer²,

Friedrich³

et al. 2022

JHEP Reports

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Section: Clinical Similarities Between Adpld and Adpkd-associated Pldmentioning

confidence: 88%

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

Sierks¹,

Schönauer²,

Friedrich³

et al. 2022

JHEP Reports

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“…Therefore, we believe that providing useful predictive information to patients fighting this illness is important. Recently, the significance of a detailed mutation type for patients with ADPKD regarding cerebral aneurysm, severity of polycystic liver disease, 32 and renal prognosis 33 has been reported. Nevertheless, the association between TKV/Mayo classification and germline mutation types has not been clearly elucidated.…”

Section: Discussionmentioning

confidence: 99%

“… 30 , 31 Of these gene mutations, 3 (splicing mutations, frameshift mutations, and nonsense mutations) are classified as truncating mutations, but they have recently been reported to have different effects on disease severity in patients with ADPKD. 32 , 33 In particular, eGFR decline is reported to be associated with PKD1 splicing mutations and PKD1 frameshift mutations. 33 At present, the relationship between TKV ≥ 1000 ml, Mayo imaging classification of 1C–1E, and detailed gene mutation types in PKD has not been reported.…”

mentioning

confidence: 99%

Germline Mutations for Kidney Volume in ADPKD

Kataoka

Yoshida

Iwasa

et al. 2022

Kidney International Reports

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“…Simple hepatic cysts can be solitary or multiple[ 4 ]. Although multiple cysts in the liver are common in these patients, the condition is distinct from PCLD, an autosomal dominant condition associated with PKD1 and PKD2 gene mutations[ 5 ]. PCLD may be associated with congenital polycystic kidney disease or dilatation of the bile ducts (Caroli’s disease), while SLCs are usually never accompanied by other organ cysts[ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Congenital hepatic cyst: Eleven case reports

Du¹,

Lu²,

Li³

et al. 2022

WJCC

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BACKGROUND Liver cysts in infants are uncommon. With modern diagnostic imaging, we can achieve an early diagnosis of congenital hepatic cysts. Our purpose was to investigate the clinical features, surgical treatment methods and prognosis of infants with congenital hepatic cysts. Herein, we report a case series of congenital hepatic cysts. CASE SUMMARY Eleven infants with hepatic cysts were retrospectively analysed. Ten of them had simple hepatic cysts, and a girl with a large hepatic mass was diagnosed with a solitary intrahepatic biliary cyst accompanied by a choledochal cyst. Among the ten simple hepatic cysts, eight were solitary and two were multiple. A total of 87.5% (7 of 8) of infants with solitary hepatic cysts were detected before delivery, and 86% (6 of 7) of those cysts were located in the right lobe of the liver. Surgical intervention was required for symptomatic hepatic cysts. Cyst resection or unroofing with fulguration of the cyst bed was employed. No recurrence of cysts was observed in these infants. CONCLUSION Congenital hepatic cyst is a condition with a narrow differential diagnosis. Accurate diagnosis is essential for appropriate management. Unroofing is the favoured treatment in infants with symptomatic cysts. Most infants with congenital hepatic cysts have a good prognosis.

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Predicting liver cyst severity by mutations in patients with autosomal-dominant polycystic kidney disease

Cited by 15 publications

References 29 publications

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

Germline Mutations for Kidney Volume in ADPKD

Congenital hepatic cyst: Eleven case reports

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