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• Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.
  Paul Gissen
  Published on: 17 September 2018
• Response to eletter
  Aakash Pandita
  Published on: 5 September 2018

• Published on: 17 September 2018

  Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney.

  • Paul Gissen, clinical academic

  Dear Sir/Madam This is a potentially interesting report suggesting unusual features such as high GGT and absent kidney present in a clinically diagnosed case of ARC syndrome. Whilst this finding might be of interest to Paediatricians and Neonatologists, the author do not provide any evidence that their diagnosis is factually correct. They write that the VPS33B sequencing was suggestive of a mutation but no report of the...

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  Dear Sir/Madam This is a potentially interesting report suggesting unusual features such as high GGT and absent kidney present in a clinically diagnosed case of ARC syndrome. Whilst this finding might be of interest to Paediatricians and Neonatologists, the author do not provide any evidence that their diagnosis is factually correct. They write that the VPS33B sequencing was suggestive of a mutation but no report of the mutation is in evidence. It is disappointing that in 2018 BMJ can publish such case reports, which I would not expect of a reputable journal. Unfortunately, this is most unhelpful and probably a misleading way to report clinical cases and in my opinion a corrigendum should be provided with definitive mutation data if this report to remain published at all. WIth respect

  Paul Gissen

  Conflict of Interest:

  None declared

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  Conflict of Interest:
  None declared.

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• Published on: 5 September 2018

  Response to eletter

  • Aakash Pandita, Doctor

  Vishal Gupta 1 , Aakash Pandita 2

  1. Neonatology, Max Hospital, New Delhi, India.

  2. SGPGI, Lucknow, U.P, India

  We thank the reader for appreciating our work. The said patient was worked up for ARC syndrome and mutational analysis was done from outside as the primary care center does not have these facilities. The patient got the genetic analysis done from outside laboratory and came with the f...

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  Vishal Gupta 1 , Aakash Pandita 2

  1. Neonatology, Max Hospital, New Delhi, India.

  2. SGPGI, Lucknow, U.P, India

  We thank the reader for appreciating our work. The said patient was worked up for ARC syndrome and mutational analysis was done from outside as the primary care center does not have these facilities. The patient got the genetic analysis done from outside laboratory and came with the final reports during the last follow up. The mutation was noted in the case sheet and patient was asked to be on regular follow up. However, the patient did not report after that and was lost to follow up. We would have liked to share further details of the mutation but the contact could not be established. Furthermore, the patient as per clinical does does qualify for the ARC syndrome with supportive laboratory evidence.

  Conflict of Interest:

  None declared

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  Conflict of Interest:
  None declared.

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