Bone marrow transplantation in patients with storage diseases: a developing country experience

Abstract

-Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this pro c e d u re in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2), one had adre n o l e u k o d y s t rophy (ALD) and one had Gaucher disease. Five patients had related and three unrelated BMT donor. Three patients developed graft versus host disease (two MPS I and one MPS VI) and died between 37 and 151 days after transplantation. Five patients survived 4 to 16 years after transplantation. Three patients improved (one MPS I; one MPS VI and the Gaucher disease patient), one patient had no disease progression (ALD) and in one patient this procedure did not change the natural course of the disease (MPS III).KEY WORDS: storage diseases, bone marrow transplantation, genetic neurological diseases, mucopolysaccharidosis, adrenoleukodystrophy, Gaucher disease.Transplante de medula óssea em pacientes com doença de acúmulo: experiência de um país em desenvolvimento RESUMO -O transplante de medula óssea é uma opção terapêutica para os pacientes com doenças de acú-mulo. Entre 1979 e 2002, oito pacientes, quatro femininos e quatro masculinos (entre um e 13 anos de idade) foram submetidos a este procedimento em nosso centro. Seis pacientes apresentavam mucopolissacaridose (MPS I em 3; MPS III em um e MPS VI em 2), um paciente apresentava adre n o l e u c o d i s t rofia e um apresentava doença de Gaucher. Cinco pacientes receberam o transplante de doador aparentado e três de doador não aparentado. Três pacientes desenvolveram doença do enxerto versus hospedeiro (dois com MPS I e um com MPS VI) e faleceram entre 37 e 151 dias após o transplante. Cinco pacientes sobreviveram entre 4 e 16 anos após o transplante. Três tiveram melhora clínica (um MPS I, um MPS VI e o paciente com doença de Gaucher), um paciente não apresentou pro g ressão da doença (adre n o l e u c o d i s t rofi a) e um paciente não teve alteração da história natural da doença (MPS III).

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

“…Around 500 children with MPS-IH, 114 with MLD, and 465 with CALD underwent HSCT worldwide before 2012 11,12 . In the same period, South American HSCT procedures were described in seven CALD patients (the follow-ups of three of them were reported by Jardim et al 17 ), six MPS and one Gaucher disease type 1 25 . Our present report adds information about four new and three already-reported CALD patients, two new MLD, and two new MPS-IH patients, focusing on their neurological outcomes.…”

“…According to the literature, survival rates improved from 55-65% in early series 6,8,25,26 to 85-95% in the most recent series 7,11 . Our rates were comparable to the latter.…”

“…Patient CALD 1, Family A CALD1, male (originally reported as patient G in Lange et al 25 ), presented with Addison disease at seven years of age. X-ALD diagnosis was made by very long-chain fatty acid (VLCFA) analysis at eight years old and he was the index patient of his family.…”

“…CALD4, male (reported as patient H in Lange et al 25 ), belongs to a large X-ALD family where mutation p.R518Q segregates. Followed as an asymptomatic carrier with normal MRIs since five years of age, CALD4 turned into an Addison-only phenotype when he was seven years old.…”

“…CALD5, male (reported as patient I in Lange et al 25 ), was admitted to our hospital at seven years, six months to investigate adrenal insufficiency. Very long-chain fatty acid analysis confirmed the diagnosis of X-ALD.…”