Introduction: A sizable number of patients in waiting list for renal transplantation (in our experience about 30%) have a disease of unknown origin, that will lay the transplant on the line. We describe the cases of a single patient and of a large family with unknown end stage renal disease (ESRD) that is correctly classified only after transplantation. Patients and methods: A 67-year-old female suffered repeated renal colic for unknown causes, she underwent renal transplantation at our center. Following the transplant, there was no graft function recovery with urgency of biopsy. A family of 100 people with 10 persons with ESRD (3 patients transplanted at our hospital) characterized by tubular-interstitial damage and corticomedullary cysts. We have suspected an uromodulin (UMOD)-associated renal diseases. UMOD hot spot regions were examined in blood samples by DHPLC. Results: In the first patient renal biopsy and urine specimens showed crystals of unknown origin. Analysis by infrared microscopy showed that they were composed of 2,8-dihydroxyadenine (DHA). Studies on red cells with radiolabelled adenine showed Adenine phosphoribosyltransferase (APRT) deficiency. The patient was treated with allopurinol and a low purine diet with recovery of renal function. In the large family were analyzed 35 subjects and we found a mutation c263G>A (pGly88Asp) in 17/35 persons, with a remarkable correspondence between genetic mutation and phenotypic renal disease. The renal biopsy showed only an unspecific pattern. Conclusions: This two cases demonstrate the importance of diagnosis in patient underwent renal transplant. In the first patient the early recognition of APRT deficiency has been important because the correct therapy prevents renal failure caused by nephrotoxic 2,8-DHA crystals. The second case underscores the role of genetic analysis in people with positive history. Furthermore, one of the above reported mutation namely c263G>A has never been described in literature before.
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION
AIROLDI, ANDREA;Fenoglio Roberta;GIACHINO, Daniela Francesca;MANDRILE, Giorgia;DE MARCHI, Mario;
2009-01-01
Abstract
Introduction: A sizable number of patients in waiting list for renal transplantation (in our experience about 30%) have a disease of unknown origin, that will lay the transplant on the line. We describe the cases of a single patient and of a large family with unknown end stage renal disease (ESRD) that is correctly classified only after transplantation. Patients and methods: A 67-year-old female suffered repeated renal colic for unknown causes, she underwent renal transplantation at our center. Following the transplant, there was no graft function recovery with urgency of biopsy. A family of 100 people with 10 persons with ESRD (3 patients transplanted at our hospital) characterized by tubular-interstitial damage and corticomedullary cysts. We have suspected an uromodulin (UMOD)-associated renal diseases. UMOD hot spot regions were examined in blood samples by DHPLC. Results: In the first patient renal biopsy and urine specimens showed crystals of unknown origin. Analysis by infrared microscopy showed that they were composed of 2,8-dihydroxyadenine (DHA). Studies on red cells with radiolabelled adenine showed Adenine phosphoribosyltransferase (APRT) deficiency. The patient was treated with allopurinol and a low purine diet with recovery of renal function. In the large family were analyzed 35 subjects and we found a mutation c263G>A (pGly88Asp) in 17/35 persons, with a remarkable correspondence between genetic mutation and phenotypic renal disease. The renal biopsy showed only an unspecific pattern. Conclusions: This two cases demonstrate the importance of diagnosis in patient underwent renal transplant. In the first patient the early recognition of APRT deficiency has been important because the correct therapy prevents renal failure caused by nephrotoxic 2,8-DHA crystals. The second case underscores the role of genetic analysis in people with positive history. Furthermore, one of the above reported mutation namely c263G>A has never been described in literature before.
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