Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review / Hiperoxalúria primária diagnosticada após transplante renal: relato de dois casos e revisão da literatura

Abstract Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease.

Resumo A hiperoxalúria primária (HP) é um distúrbio genético muito raro, caracterizado por deficiência total ou parcial das enzimas relacionadas ao metabolismo do glioxilato, superprodução de oxalato de cálcio que se deposita em vários órgãos (principalmente os rins) resultando em litíase recorrente, nefrocalcinose e doença renal terminal (DRT). Nos pacientes com DRT que recebem transplante renal, a doença apresenta recidiva em 100% dos casos, com perda do enxerto nos primeiros cinco anos após o transplante num elevado percentual de pacientes. Três distúrbios moleculares foram descritos na HP: mutação dos genes da alanina-glioxilato aminotransferase (AGXT), glioxilato redutase/hidroxipiruvato redutase (GRHPR) e 4-OH-2-oxoglutarato aldolase (HOGA1). Apresentamos dois casos de pacientes com histórico de litíase renal diagnosticados com hiperoxalúria primária no período pós-transplante, manifestada na forma de perda precoce do enxerto com evidências de cristais de oxalato de cálcio na biópsia renal, hiperoxalúria, hiperoxalemia e testes genéticos compatíveis. Os pacientes foram tratados com abordagem nutricional, líquidos orais em abundância, piridoxina, hidroclorotiazida e citrato de potássio. Contudo, os pacientes apresentaram deterioração lenta e gradual da função do enxerto e evoluíram para doença renal terminal.

Primary hiperoxaluria diagnosed after kidney transplantation: report of 2 cases and literature review.

Primary hyperoxaluria (PH) is a very rare genetic disorder; it is characterized by total or partial deficiency of the enzymes related to the metabolism of glyoxylate, with an overproduction of calcium oxalate that is deposited in different organs, mainly the kidney, leading to recurrent lithiasis, nephrocalcinosis and end stage renal disease (ESRD). In patients with ESRD that receive kidney transplantation alone, the disease has a relapse of 100%, with graft loss in a high percentage of patients in the first 5 years of transplantation. Three molecular disorders have been described in PH: mutation of the gene alanin glioxalate aminotransferase (AGXT); glyoxalate reductase/hydroxy pyruvate reductase (GRHPR) and 4-OH-2-oxoglutarate aldolase (HOGA1). We present two cases of patients with a history of renal lithiasis who were diagnosed with primary hyperoxaluria in the post-transplant period, manifested by early graft failure, with evidence of calcium oxalate crystals in renal biopsy, hyperoxaluria, hyperoxalemia, and genetic test compatible; they were managed with proper diet, abundant oral liquids, pyridoxine, hydrochlorothiazide and potassium citrate; however, they had slow but progressive deterioration of their grafts function until they reached end-stage chronic renal disease.

Internista Internista / Internist Internist

"Esta encrucijada de destinos ha forjado un patria densa e indescifrable donde lo inverosímil es la única medida de la realidad. Nuestra insignia es la desmesura. En todo: en lo bueno y en lo malo, en el amor y en el odio, en el júbilo de un triunfo y en la amargura de una derrota. Destruimos a los ídolos con la misma pasión que los creamos. Somos intuitivos, autodidactas espontáneos y rápidos y trabajadores encarnizados, pero, nos enloquece la sola idea del dinero fácil. Tenemos en el mismo corazón la misma cantidad de rencor político y de olvido histórico. Un éxito resonante o una derrota deportiva pueden costarnos tantos muertos como un desastre aéreo. Por la misma causa somos una sociedad sentimental en la que prima el gesto sobre la reflexión, el ímpetu sobre la razón, el calor humano sobre la desconfianza. Tenemos un amor casi irracional por la vida, pero nos matamos unos a otros por las ansias de vivir. Al autor de los crímenes más terribles lo pierde una debilidad sentimental. De otro modo: al colombiano sin corazón lo pierde el corazón" (1). En tiempos de la globalización, la conectividad, el libre acceso a toda la información presente en la red (con sustento y rigor científico y la que no los tiene), las diferentes ofertas que invaden nuestro espacio íntimo virtual, permiten a las redes sociales actuar con el ímpetu de la rapidez y la sorpresa, de tal manera que en espacios mínimos de tiempo (impensables en el siglo XX) ahora irrumpen con fuerza, en ocasiones desmedida, al presentarse en la sociedad, aglutinar sentimientos y provocar reacciones comunitarias visibles, generando impactos y resultados inmediatistas con consecuencias que solo el tiempo mostrará en su verdadera dimensión.

Falla renal aguda asociada a síndrome de hiperestimulación ovárica / Acute renal failure associated with ovarian hyperstimulation syndrome

El síndrome de hiperestimulación ovárica es una complicación frecuente que se puede presentar en pacientes que reciben tratamientos de inducción de la ovulación y como consecuencia pueden desarrollar un síndrome edematoso grave con falla de uno o varios órganos; presentamos el caso de una paciente con falla renal aguda asociada a síndrome de hiperestimulación ovárica. (Acta Med Colomb 2016; 41:58-61).

Ovarian hyperstimulation syndrome is a common complication that can occur in patients receiving treatment for ovulation induction and as a consequence may develop a severe edematous syndrome with failure of one or more organs; the case of a patient with acute renal failure associated with ovarian hyperstimulation syndrome is presented. (Acta Med Colomb 2016; 41:58-61).