Molecular genetics and metabolism · 2026
Progressive short stature in Pearson syndrome and the impact of organ failure.
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Yoshimi Ayami, Cario Holger, Timmermann Kirsten, Kontny Udo, Lobitz Stephan, Odenthal Helen S, Schmid Irene, Seitz Barbara, Höll Tanja, Lücke Thomas, Borkhardt Arndt, Strauß Gabriele, Hohnecker Alexander, Metzler Markus, Karall Daniela, Noellke Peter, Niemeyer Charlotte M, Grünert Sarah C
Аннотация
BACKGROUND: Pearson syndrome (PS) is a rare, unique primary mitochondrial disorder characterized by single large-scale mitochondrial DNA deletions, bone marrow failure, lactic acidosis, and progressive multi-organ complications.
METHODS: We retrospectively evaluated anthropometric data from 25 patients with PS.
RESULTS: The median height, weight, and body mass index (BMI) standard deviation scores (SDS) at the last measurement were - 1.95 (range: -7.32 to 1.09), -1.70 (range: -12.26 to 0.11), and - 1.52 (range: -5.01 to 2.19), respectively; 50%, 40%, and 37.5% of patients, respectively, had values below -2 SDS. Longitudinal data from 18 patients showed that height and weight SDS declined progressively with age in most patients, whereas BMI SDS fluctuated without a clear age-related trend. Initiation of tube feeding improved weight and BMI SDS in some patients, while height SDS continued to decline without catch-up growth. Patients with organ failure exhibited an earlier decline in height SDS than those without organ failure.
CONCLUSIONS: Patients with PS are generally short and underweight, and their short stature worsens over time. The presence of organ failure further exacerbates growth impairment.
METHODS: We retrospectively evaluated anthropometric data from 25 patients with PS.
RESULTS: The median height, weight, and body mass index (BMI) standard deviation scores (SDS) at the last measurement were - 1.95 (range: -7.32 to 1.09), -1.70 (range: -12.26 to 0.11), and - 1.52 (range: -5.01 to 2.19), respectively; 50%, 40%, and 37.5% of patients, respectively, had values below -2 SDS. Longitudinal data from 18 patients showed that height and weight SDS declined progressively with age in most patients, whereas BMI SDS fluctuated without a clear age-related trend. Initiation of tube feeding improved weight and BMI SDS in some patients, while height SDS continued to decline without catch-up growth. Patients with organ failure exhibited an earlier decline in height SDS than those without organ failure.
CONCLUSIONS: Patients with PS are generally short and underweight, and their short stature worsens over time. The presence of organ failure further exacerbates growth impairment.
Предметные рубрики MeSH
HumansFemaleMitochondrial DiseasesChild, PreschoolMaleChildAdolescentBody HeightBody Mass IndexRetrospective StudiesInfantDNA, MitochondrialAcyl-CoA Dehydrogenase, Long-ChainMuscular DiseasesLipid Metabolism, Inborn ErrorsMultiple Organ FailureBody WeightDwarfismAdultCongenital Bone Marrow Failure Syndromes