Neonatal haemochromatosis with reversible pituitary involvement

Indolfi, Giuseppe; Bèrczes, Rita; Pelliccioli, Isabella; Bosisio, Michela; Agostinis, Cristina; Resti, Massimo; Zambelli, M.; Lucianetti, A.; Colledan, M.; D’Antiga, Lorenzo

doi:10.1111/tri.12336

Cited by 9 publications

(3 citation statements)

References 16 publications

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“…Both were treated with high-dose intravenous immunoglobulin (plus exchange transfusion in 1). One patient (female) recovered with medical treatment, the second one (male) required LT. As of the last follow up, he is well (aged 10 years); this case has been described separately [ 19 ].…”

Section: Resultsmentioning

confidence: 99%

Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome

et al. 2023

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Management of children with acute liver failure is challenging. In this retrospective study, paediatric patients diagnosed with ALF at our centre, in the last 26 years, were divided into two groups (G1 = diagnosed from 1997 to 2009; G2 = from 2010 to 2022) and compared to see whether they differed with regard to aetiologies, need for liver transplantation (LT), and outcome. A total of 90 children (median age 4.6 years, range 1.2–10.4; M/F = 43/47) were diagnosed with ALF, by autoimmune hepatitis (AIH) in 16 (18%), paracetamol overdose in 10 (11%), Wilson disease in 8 (9%), and other causes in 19 (21%); 37 (41%) had indeterminate ALF (ID-ALF). Comparing the two periods, the clinical features, aetiologies, and median peak values of INR [3.8 (2.9–4.8) in G1 vs. 3.2 (2.4–4.8) in G2] were similar (p > 0.05). The percentage of ID-ALF tended to be higher in G1 compared to G2 (50% vs. 32% in G2, p = 0.09). The overall percentage of patients diagnosed with Wilson disease, inborn errors of metabolism, neonatal hemochromatosis or viral infection was higher in G2 (34% vs. 13% in G1, p = 0.02). A total of 21/90 patients (23%; 5 with indeterminate ALF) were treated with steroids; 12 (14%) required extracorporeal liver support treatment. The need for LT was significantly higher in G1 compared to G2 (56% vs. 34%; p = 0.032). Among 37 children with ID-ALF, 6 (16%) developed aplastic anaemia (all in G2, p < 0.001). The survival rate at last follow up was of 94%. On a KM curve, the transplant-free survival was lower in G1 compared to G2. In conclusion, we report a lower need for LT in children diagnosed with PALF during the most recent period compared to the first era. This suggests improvements over time in the diagnosis and management of children with PALF.

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Section: Resultsmentioning

confidence: 99%

Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome

et al. 2023

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“…A series of transcription factors are involved in pituitary gland formation. Neonatal hypopituitarism may occur due to developmental defects of the pituitary gland, genetic mutations, and perinatal and neonatal events (Table 1) (1,2,3,4,5,6,7,8). Genetic mutations causing hypopituitarism and their sub-groups are shown in Tables 2 and 3 (1,9,10,11,12,13,14).…”

Section: Introductionmentioning

confidence: 99%

Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

Kurtoğlu

Özdemır

Hatipoğlu

2019

Jcrpe

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Hypopituitarism is defined as a decreased release of hypophyseal hormones, which may be caused by disease of the pituitary gland disease or hypothalamus. The clinical findings of neonatal hypopituitarism depend on the causes and on presence and extent of hormonal deficiency. Patients may be asymptomatic or may demonstrate non-specific symptoms, but may still be at risk for development of pituitary hormone deficiency over time. Patient history, physical examination, endocrinological, radiological and genetic evaluations are all important for early diagnosis and treatment. The aim of this paper was to present a review of etiological factors, clinical findings, diagnosis and treatment approaches in neonatal hypopituitarism.

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“…A series of transcription factors are involved in pituitary gland formation. Neonatal hypopituitarism may occur due to developmental defects of the pituitary gland, genetic mutations, and perinatal and neonatal events (1)(2)(3)(4)(5)(6)(7)(8) (Table 1). Genetic mutations causing hypopituitarism and their sub-groups are shown in Tables 2 and 3 (1,(9)(10)(11)(12)(13)(14).…”

Section: Introductionmentioning

confidence: 99%

Neonatal Hypopituitarism: Diagnosis and Treatment Approaches

Kurtoğlu¹,

Özdemır²,

Hatipoğlu³

2018

Jcrpe

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What is already known on this topic?The pituitary gland is the central regulator of growth, metabolism, reproduction and homeostasis. Hypopituitarism is defined as a decreased release of hypophysis hormones, which may be caused by pituitary gland disease or hypothalamus disease. Clinical findings for neonatal hypopituitarism depend on causes and hormonal deficiency type and degree. If early diagnosis is not made, it may cause pituitary hormone deficiencies. What this study adds?We aim to contribute to the literature through a review of etiological factors, clinical findings, diagnoses and treatment approaches for neonatal hypopituitarism. We also aim to increase awareness of neonatal hypopituitarism. We also want to emphasize the importance of early recognition. AbstractHypopituitarism is defined as a decreased release of hypophysis hormones, which may be caused by pituitary gland disease or hypothalamus disease. Clinical findings for neonatal hypopituitarism depend on causes and hormonal deficiency type and degree. Patients may be asymptomatic or may demonstrate non-specific symptoms, but may still be under risk for development of hypophysis hormone deficiency with time. Anamnesis, physical examination, endocrinological, radiological and genetic evaluations are all important for early diagnosis and treatment. Treatment of hypopituitarism patients is possible through treatment of hypophysis and hypothalamus disorders. The aim of this article is to contribute to the literature through a review of etiological factors, clinical findings, diagnoses and treatment approaches for neonatal hypopituitarism.

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Neonatal haemochromatosis with reversible pituitary involvement

Cited by 9 publications

References 16 publications

Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome

Identifying the Aetiology of Acute Liver Failure Is Crucial to Impact Positively on Outcome

Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

Neonatal Hypopituitarism: Diagnosis and Treatment Approaches

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