Review for 10.1186/s12876-020-01445-2 (2020)

Reviewer’ s report
Title: Type IV choledochal cyst with polycystic kidney disease:A case report
Version: 0Date: 13 May 2020
Reviewer's report:The manuscript by He et al analyzes the manifestation of intra- and extra-hepatic choledochal
cysts (type IV choledochal cysts) as a possible extra-renal manifestation of autosomal dominant
polycystic kidney disease (ADPKD). Since type V choledochal cysts have been associated withADPKD, the authors' proposal is potentially possible, interesting and relevant. The report has aflaw, however, that needs to be resolved before further evaluation: the diagnosis of ADPKD,which was not appropriately established.
Comments:1. The diagnosis of ADPKD can be made based on different sets of criteria. The chosen one (Pei et
al, J Am Soc Nephrol, 26:746-53, 2015), however, is not applicable to the current case. Suchcriteria (more than 10 renal cysts based on MRI) are applicable to at-risk individuals, ie,individuals with a family history of ADPKD. The authors mention, however, that the patient hasno family history of diseases. The criteria employed to diagnose ADPKD, therefore, were notappropriate for the current case.Please confirm that the patient has no family history of ADPKD.
2. If no family history is indeed referred, the authors may seek and find evidence of inherited
disease by imaging the parents' kidneys (which may not be possible given the age of the patient) or
the kidneys of strategic family members. If this analysis reveals a family with ADPKD, then the
authors could use the criteria they used to establish the diagnosis in the patient; otherwise theycould not do so.
3. If the patient remains with no evidence of inherited ADPKD, the possibility that this disease is
caused by a de novo mutation in the PKD1 or PKD2 genes should be investigated. Since this is acase report, ideally the investigation of this possibility should be pursued with a genetic testdirected to PKD1 and PKD2. If no pathogenic variants are detected in these two genes, and basedon the patient's phenotype, it would be appropriate to proceed with genetic testing using a genepanel including PKHD1, GANAB and DNAJB11.
4. If genetic testing is not available or the genetic analysis does not allow a positive diagnosis,
another option (not ideal for this case, but acceptable) may be applied. Although no imaging-basedcriteria for diagnosis of ADPKD in patients with no family history have been established, expertopinion (uptodate, Autosomal dominant polycystic kidney disease (ADPKD) in adults:Epidemiology, clinical presentation, and diagnosis) states that such individuals can be diagnosedwith ADPKD if they have 10 or more cysts with 5 mm or more in each kidney and have nofeatures of another kidney cystic disease. The strength of these criteria is particularly high if the
kidneys are enlarged or liver cysts are detected. If the diagnosis seeking comes to this point, I
recommend to apply these criteria to the current patient.
5. If the authors can establish the diagnosis of ADPKD in this case, they should include in the
manuscript all appropriate information that supports it and re-send the paper for further evaluation.If they cannot do so (and no other diagnosis is established), the manuscript should not be re-sent.
Are the methods appropriate and well described?
If not, please specify what is required in your comments to the authors.
NoDoes the work include the necessary controls?
If not, please specify which controls are required in your comments to the authors.
Unable to assessAre the conclusions drawn adequately supported by the data shown?
If not, please explain in your comments to the authors.
Unable to assessAre you able to assess any statistics in the manuscript or would you recommend an
additional statistical review?If an additional statistical review is recommended, please specify what aspects require furtherassessment in your comments to the editors.
Not relevant to this manuscript
Quality of written English
Please indicate the quality of language in the manuscript:
AcceptableDeclaration of competing interests
Please complete a declaration of competing interests, considering the following questions:
1. Have you in the past five years received reimbursements, fees, funding, or salary from an
organisation that may in any way gain or lose financially from the publication of thismanuscript, either now or in the future?
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose
financially from the publication of this manuscript, either now or in the future?
3. Do you hold or are you currently applying for any patents relating to the content of the
manuscript?
4. Have you received reimbursements, fees, funding, or salary from an organization that holds
or has applied for patents relating to the content of the manuscript?
5. Do you have any other financial competing interests?6. Do you have any non-financial competing interests in relation to this paper?
If you can answer no to all of the above, write 'I declare that I have no competing interests' below.
If your reply is yes to any, please give details below.
I declare that I have no competing interests.Reviewer Publication Consent. I agree for my report to be made available under an Open Access
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