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: 1Date: 21 Jun 2020
Reviewer's report:The presence of more than 3 renal cysts by ultrasound in the patient's daughter, who is 39 years
old (criteria in Pei et al, J Am Soc Nephrol, 2009), indeed allows the application to the patient of
at-risk (positive family history) criteria for the diagnosis of ADPKD. The MRI-based criteriaapplicable to at-risk individuals to establish the diagnosis of ADPKD (more than 10 renal cysts),however, is applicable to the age range of 16 to 40 years (Pei et al, J Am Soc Nephrol, 2015), andthe patient is 65 years old. Therefore, although the patient's MRI is highly suggestive of ADPKD,a conclusive diagnosis should be made/confirmed on the basis of one of the 3 choices below(which are very likely to be fulfilled in this patient):
1. A renal ultrasound with 4 or more cysts in each kidney (Pei et al, J Am Soc Nephrol, 2009).2. If not possible to have an ultrasound: Although not validated by a performed study, some
experts would consider that a renal MRI with 4 or more cysts with 1 cm or more in each kidneywould be acceptable (since the Pei et al's ultrasound criteria were established with machines thatwere capable of detecting cysts with 1 cm or more in diameter). Obs.: This approach can also beused for CT imaging.
3. If not possible to have an ultrasound: Although not validated by a performed study, some
experts would consider that a renal MRI with 4 or more cysts with 5 mm or more in each kidney
would be also acceptable (although with 1 cm or more would be more appropriate), since the Pei et
al's ultrasound criteria have been also applied to ultrasound imaging performed with new machinesthat detect cysts with 5 mm or more. Obs.: This approach can also be used for CT imaging.
Although not necessary for the current report (because the daughter already meets the diagnostic
criteria), a conclusive diagnosis of ADPKD can be also established/confirmed in the patient's sonusing one of the options above (but in this case 2 or more cysts in each kidney), since he is 42years old (therefore out of the 16-40-year range). Please include this information in the report.
Please also include more information in the discussion about the genetic and molecular basis of
ADPKD. The conclusion should be also written in a context that includes ADPKD, since it is itsassociation with type IV choledochal cyst what brings relevance to the manuscript.
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