ESPE Abstracts (2019) 92 P3-168

Efficacy of Growth Hormone Treatment in a Patient with Chronic Granulomatous Disease, who Developed Acute Myeloid Leukemia after Bone Marrow Transplantation

Benedetta Bossini1, Maria Chiara Pellegrin2, Sameh Tawfik3, Natalia Maximova2, Egidio Barbi1,2, Gianluca Tornese2


1Univeristy of Trieste, Trieste, Italy. 2Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy. 3Head Pediatric Departement Maadi Hospital, Cairo, Egypt


Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.

Case presentation: At the age of 8 years, an Egyptian boy affected by CGD, underwent BMT from his healthy HLA identical sister. Previous medical history included recurrent lymphadenitis, osteomyelitis and pulmonary aspergilloma. At that time, his height was -1.51 SDS (according to WHO growth charts), appropriate for target height (-0.68 SDS). A diagnosis of acute myeloid leukemia (AML) was made two years later. He was treated according to AIEOP (Associazione Italiana di Ematologia e Oncologia Pediatrica) AML 2002 protocol and reached complete remission after a second BMT. After one year, he developed chronic hepatic graft versus host disease (GVHD). At the age of 12, in the absence of minimal residual disease in the last 2 years, a deceleration in growth velocity (height -1.85 SDS) was found and growth hormone deficiency (GHD) was diagnosed (first test peak 7.9 ng/ml, second test peak 1.9 ng/m). GH replacement therapy was started at a dosage of 31 mcg/kg/day, with initial growth improvement. Eight months later treatment was suspended for AML relapse with central nervous system involvement. The boy underwent a third BMT, this time from a matched unrelated donor, with a subsequent stable disease remission. At 14 years, in the absence of minimal residual disease, considering a persistent growth impairment (height -2.64 SDS, growth velocity -5.67 SDS, Tanner stage 1), IGF-1 low levels and 2-year delayed bone age, he resumed treatment with somatropin at a dosage of 15 mcg/kg/day. Growth rate improved (8.86 cm/year, +4.48 SDS), according to a good spontaneous pubertal progression. At the age of 18, his final height was 165 cm (-1.47 SDS). During GH treatment, IGF-I levels remained in normal range. Maximum GH dosage was 30 mcg/kg/day. Therapy was well tolerated, except for development of mild IFG and hyperinsulinism.

Conclusions: We present a complex case of CGD who developed AML after transplantation. Main growth impairment became evident after AML onset. Despite two leukemic relapses and chronic GVHD associated with negative influences of multiple chemotherapies and pre-transplantation conditioning (but without body irradiation), standard dosage of GH was effective in improving growth and final height.

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