Rocky is a 22-year-old young man with good past health, admitted to the orthopedic ward for a fractured right thumb during a football match two weeks ago. The pre-operative blood test incidentally revealed a normocytic normochromic anaemia with haemoglobin of 6.7 g/dL and creatinine of 450 umol/L. Kidneys on both sides were only 9.4 cm, which were small in his age. Urine analysis shown minimal proteinuria and therefore glomerular pathology was excluded. Congenital agenesis and post-renal cause were unlikely given his asymptomatic clinical features.
He was taken to the nephrologists and a Tenckhoff catheter was inserted last week for peritoneal dialysis (PD), in view of rapidly deteriorating renal function. His creatinine reached 1000 umol/L today and necessitated an urgent in-patient PD. The experts are now putting Medullary Cystic Disease (By the age of onset, probably type 2?) higher up in their list differential diagnosis. Further management includes renal biopsy and definitive treatment should be renal transplant.
There are four boys in Rocky's family and he is the third one. All three boys, with two known to be more determined, agreed to donate one of their kidneys to Rocky after knowing his situation. Words are cheap and life is not that simple. The brothers have to go through a chain of exhausting investigations before proceding to transplantation. Hopefully, we can find a kidney from them for Rocky.
But think back. If the kidney biopsy of Rocky comes back and Type 2 Medullary Cystic Disease is confirmed, the pre-transplantation tests for the brothers would become a chain of screening tests - the disease is autosomal dominant - all of them may carry the diseased allele. In the worse scenario, loads of dialysate and four kidneys, instead of one, will be needed.
It would be a disaster for this family.
He was taken to the nephrologists and a Tenckhoff catheter was inserted last week for peritoneal dialysis (PD), in view of rapidly deteriorating renal function. His creatinine reached 1000 umol/L today and necessitated an urgent in-patient PD. The experts are now putting Medullary Cystic Disease (By the age of onset, probably type 2?) higher up in their list differential diagnosis. Further management includes renal biopsy and definitive treatment should be renal transplant.
There are four boys in Rocky's family and he is the third one. All three boys, with two known to be more determined, agreed to donate one of their kidneys to Rocky after knowing his situation. Words are cheap and life is not that simple. The brothers have to go through a chain of exhausting investigations before proceding to transplantation. Hopefully, we can find a kidney from them for Rocky.
But think back. If the kidney biopsy of Rocky comes back and Type 2 Medullary Cystic Disease is confirmed, the pre-transplantation tests for the brothers would become a chain of screening tests - the disease is autosomal dominant - all of them may carry the diseased allele. In the worse scenario, loads of dialysate and four kidneys, instead of one, will be needed.
It would be a disaster for this family.
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