Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

Watanabe, Minemori; Asai, Chikako; Ishikawa, Kazue; Kiyota, Atsushi; Terada, Tatsuhiro; Kono, Satoshi; Miyajima, Hiroaki; Okumura, Atsuko

doi:10.2169/internalmedicine.49.3508

Cited by 12 publications

(10 citation statements)

References 24 publications

(26 reference statements)

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“…The review of the literature showed 52 original case descriptions in 39 articles . Genealogical studies of the reported cases revealed seven additional patients without detailed case descriptions .…”

Section: Resultsmentioning

confidence: 99%

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

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There is a diagnostic window during which diabetes and anaemia are present although there is an absence of neurological symptoms. Screening for aceruloplasminemia in adult non-obese individuals presenting with antibody-negative, insulin-dependent diabetes mellitus and unexplained anaemia is recommended. The combination of ferritin and transferrin saturation provides a sensitive initial measure for aceruloplasminemia.

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Section: Resultsmentioning

confidence: 99%

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

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“…Our study confirms that a small number of Japanese people are affected by iron overload disorders caused by a variety of genotypes (CP, HAMP, HJV, TFR2, and SLC40A1) and that the hepcidin system plays different roles in the conditions caused by each genotype. Regarding the clinical features and genetic backgrounds of these patients, several cases of each condition have already been reported in detail 7,8,19–24 . However, this study is the first to systematically assess the clinicopathological features of Japanese patients with defined genetic backgrounds.…”

Section: Discussionmentioning

confidence: 99%

“…Diabetes mellitus is multi‐factorial in patients with iron overload syndromes. For example, beta‐cells in the pancreatic islets of Langerhans may be damaged by iron‐induced oxidative stress, resulting in insulin deficient DM, whereas iron overload in the brain may be involved in central DM due to secondary endocrine organ damage 23 . A recent study suggested that glucose intolerant HH patients are more insulin resistant than glucose tolerant HH patients 25 …”

Section: Discussionmentioning

confidence: 99%

Clinicopathological study of Japanese patients with genetic iron overload syndromes

Hattori

Miyajima

Tomosugi

et al. 2012

Pathology International

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In addition to hemochromatosis, aceruloplasminemia and ferroportin disease may be complicated by iron-induced multiple organ damage. Therefore, clinicopathological features should be evaluated in a wider range of genetic iron disorders. This study included 16 Japanese patients with genetic iron overload syndromes. The responsible genes were CP in four, HAMP in one, HJV in three, TFR2 in five, and SLC40A1 in three patients. No phenotype dissociation was observed in patients with the CP, TFR2, or HAMP genotypes. Two of the three patients with the HJV genotype displayed classic hemochromatosis instead of the juvenile type. Patients with the SLC40A1 genotype were affected by mild iron overload (ferroportin A) or severe iron overload (ferroportin B). Transferrin saturation was unusually low in aceruloplasminemia patients. All patients, except those with ferroportin disease, displayed low serum hepcidin-25 levels. Liver pathology showed phenotype-specific changes; isolated parenchymal iron loading in aceruloplasminemia, periportal fibrosis associated with heavy iron overload in both parenchymal and Kupffer cells of ferroportin B, and parenchyma-dominant iron-loading cirrhosis in hemochromatosis. In contrast, diabetes occurred in all phenotypes of aceruloplasminemia, hemochromatosis, and ferroportin disease B. In conclusion, clinicopathological features were partially characterized in Japanese patients with genetic iron overload syndromes.

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“…A few cases of hypopituitarism and diabetes insipidus [19] have been reported in mitochondrial cytopathies [9,45,103,104] and iron overload [125-127]. …”

Section: Hypopituitarism and Growthmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

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Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

Cited by 12 publications

References 24 publications

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Clinicopathological study of Japanese patients with genetic iron overload syndromes

Endocrine manifestations related to inherited metabolic diseases in adults

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