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  • NGAL and CVD: Blinkers off!

    Am J Kidney Dis. 2014 Oct 10. pii: S0272-6386(14)01163-9. doi: 10.1053/j.ajkd.2014.07.025. [Epub ahead of print] Urine Neutrophil Gelatinase-Associated...

    DIALYSIS CATHETER THROMBOSES

    By Dr NICHOLAS FARDON, CON, SULTANT RENAL PHYSICIAN AT THE SHEFFIELD KIDNEY INSTITUTE, SHEFFIELD, UK: SHARING HIS EXPERIENCE OF > 2000 TUNELLED DIALYSIS...
  • PURE Confusion

    Two articles have been published this month in the NEJM relating to the PURE study outcomes: N Engl J Med. 2014 Aug 14;371(7):601-11. doi:...

    BE SMART ON SHARP!

    J Am Soc Nephrol. 2014 Aug;25(8):1825-33. doi: 10.1681/ASN.2013090965. Epub 2014 May 1.   This publication from the SHARP study group showed NO...

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Case of the Month

  September 2014

A 36-year-old Caucasian male has suffered from recurrent epistaxis and easy bruising since childhood. At age 19 while he joined the army, he was found to have hypertension and albuminurea and progressive CKD. He started dialysis again and at the age of 27 received a second renal cadaveric transplant. He lost his first transplant due to rejection. His family history showed, his father died at age of 70 with sepsis, his blood film while he was in the hospital showed macro thrombocytopenia and leukocyte inclusion bodies.  The patient's sister has also easy bruising and had bilateral high tone sensory neural deafness.                                                                                    

Physical exam of the patient did not show any abnormality apart from obesity and surgical scars and the slit lamp examination of the eyes showed bilateral congenital cataract. Audiometric assessment showed bilateral moderate high tone sensorineural deafness. Routine blood tests were as follows: Hb 14.1 gm/dl, WBC 10.9 × 109/L with normal differential and platelet count 78× 109/L. microscopic examination of the of the peripheral blood smear had showed giant platelets and cytoplasmic inclusions in the neutrophils and eosinophils. Bleeding time, PTT, aPTT, Thrombin time, and fibrinogen level were normal. Urine analysis was normal. Creatininee clearance was 80ml/min. LFT, serum electrolytes, and serum albumin was normal.

What is the most likely diagnosis?

Read: 556 times Answered: 170 times Top score: 100%

Current Discussions

    • elnahas's Avatar
    • sickle cell trait ESRD – kidne...
    • No experience but I attach a good review. Generally, they are transplantable. www.ncbi.nlm.nih.gov/pubmed/22309412
    • 4 hours 38 minutes ago
    • msaiti's Avatar
    • CATHETER RELATED THROMBUS
    • Thank you once again Dr Fardon for this very nice and extensive experience and information about catheter related problems from SKI. Could you please let us know which type of permanent catheter you...
    • 6 hours 6 minutes ago
    • sudanephro's Avatar
    • ESRD in a Polyuric Child
    • I agree with you prof. Neveen for the possibility of Nephronophthisis especially the juvenile type which is associated with CNS findings(in association with some syndromes senior luken , jubers meckel...
    • 6 hours 7 minutes ago
    • Koech's Avatar
    • NGAL and CVD: Blinkers off!
    • I agree, it is more of a reflection of a baseline inflammatory state predisposing to CVD than the NGAL per se, NGAL is just a pointer to "subclinical" inflammation.
    • 6 hours 31 minutes ago

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