Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study

Round 1

Reviewer 1 Report

Dear authors

You have submitted a highly interesting paper about an unusual case of FH3. The histological, immunohistochemical, and molecular evaluation of the sections of the adrenal gland as well as the in situ visualization of aldosterone by matrix-assisted laser desorption/ionization imaging mass spectrometry are of a high standard. I feel that more clinical data are needed concerning target organ damage, blood pressure treatment, eventually kidney biopsy if it was performed. Pure hypertensive nephrosclerosis generating end stage kidney disease are less frequent as usually diagnosed, as it was proven by Italian nephrologists some time ago.

Author Response

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Author Response File: Author Response.docx

Reviewer 2 Report

1.This case report of FH3 with unusual tumor development is very interesting, the author provides convictive histological/molecular findings, also the pathological findings were similar to those of previously reported cases, but the development of adrenal tumors is particular.

2.This case reveals a de novo germline mutation of the KCNJ5 gene that resulted in severe hyperaldosteronism with serious target organ damage, resulting in end-stage renal disease.

3. I suggest making a discussion of the therapeutic strategy for the specific case.

4. If it is possible to validate the mutation of the KCNJ5 gene in specimen from left adrenalectomy when she was 15 years old.

Author Response

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Author Response File: Author Response.docx