Studies on anti-rabphilin-3A antibodies in 15 consecutive patients presenting with central diabetes insipidus at a single referral center

Arihara, Zenei; Sakurai, Kazutoshi; Niitsuma, Satsuki; Sato, Risaburô; Yamada, Shozo; Inoshita, Naoko; Iwata, Naoko; Fujisawa, Haruki; Watanabe, Takashi; Suzuki, Atsushi; Takahashi, Kazuhiro; Sugimura, Yoshihisa

doi:10.1038/s41598-022-08552-y

Cited by 8 publications

(14 citation statements)

References 54 publications

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“…Anti-rabphilin-3A antibody in the serum was detected by western blotting using recombinant human rabphilin-3A protein lysate as the antigen and serum as the primary antibody. A protein band with a size of 76 kDa appeared in the lysate of cells transfected with rabphilin-3A protein, but not in that of control cells, which was considered to be positive for anti-rabphilin-3A antibody, as reported previously [9,11].…”

Section: Detection Of Anti-rabphilin-3a Antibodies By Western Blottingsupporting

confidence: 55%

“…Table 1 summarizes the positive and negative cases of anti-rabphilin-3A antibody in histologically confirmed pituitary diseases from previous reports [9,11,16,17]. The sensitivity was 100% for LINH, 11.1% for LAH, 75.0% for LPH, 87.5% for LINH and LPH.…”

Section: Sensitivity and Specificity Of Anti-rabphilin-3a Antibody In...mentioning

confidence: 91%

“…The detection of serum anti-rabphilin-3A antibodies has been reported not only in LINH, but also in LPH and LAH [9,11,16,17]. Case 1 presented with anterior and posterior pituitary dysfunction and a histopathological diagnosis of LPH was determined.…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 94%

“…Recently, it was reported that anti-rabphilin-3A antibodies can be used as diagnostic markers for LINH [9,11]. Among these, only a few pediatric cases have been reported [12,13].…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

“…The rabphilin-3A is thought to be a pathogenetic antigen [23], not expressed in the anterior pituitary gland, but is found in the posterior pituitary gland [11]. Arihara et al reported the rabphilin-3A antibodies positive patient that LPH developed after the onset of CDI, suggesting that the inflammation may spread from the posterior pituitary to the anterior pituitary and then to the entire pituitary gland [9]. However, our two pediatric patients positive for anti-rabphilin-3A antibodies presented with varying degrees of anterior hypopituitarism; anterior pituitary hypopituitarism preceded CDI in our Case 1, and only anterior pituitary hypopituitarism was seen without CDI in Case 2.…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

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Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

et al. 2023

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Lymphocytic hypophysitis (LYH) is a rare chronic inflammatory disease characterized by lymphocytic infiltration of the anterior or posterior pituitary gland and hypothalamus. LYH is subdivided into lymphocytic adenohypophysitis (LAH), lymphocytic infundibulo-neurohypophysitis (LINH), and lymphocytic panhypophysitis (LPH) depending on the primary site. Most cases occur in adults, with few cases reported in children, and it is especially important to distinguish LYH from suprasellar malignancies, such as germ cell tumors and other neoplastic diseases. Although a biopsy is necessary for definitive diagnosis, it is desirable to be able to diagnose the disease without biopsy if possible, especially in children, because of the surgical invasiveness of the procedure. Recently, serum anti-rabphilin-3A antibodies have attracted attention as diagnostic markers for LYH, especially in LINH, but there are only a few reports on pediatric patients. In the present study, we experienced two children with LPH and LAH, respectively, who tested positive for anti-rabphilin-3A antibodies. This is the first report of children with LYH other than LINH positive for anti-rabphilin-3A antibodies, and anti-rabphilin-3A antibodies may be a useful non-invasive diagnostic marker not only for LINH but also for LYH in general. We also discuss the sensitivity and specificity of anti-rabphilin-3A antibody testing in cases where histological diagnosis has been made.

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Section: Detection Of Anti-rabphilin-3a Antibodies By Western Blottingsupporting

confidence: 55%

Section: Sensitivity and Specificity Of Anti-rabphilin-3a Antibody In...mentioning

confidence: 91%

Section: Endocrine Journal Advance Publicationmentioning

confidence: 94%

“…Recently, it was reported that anti-rabphilin-3A antibodies can be used as diagnostic markers for LINH [9,11]. Among these, only a few pediatric cases have been reported [12,13].…”

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

Section: Endocrine Journal Advance Publicationmentioning

confidence: 99%

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Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

et al. 2023

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Central diabetes insipidus with anti-rabphilin-3A antibody positivity causing hypovolemic shock after resection of tumorous lesions in the pelvic cavity

et al. 2022

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Absence of anti–rabphilin-3A antibodies in children and young adults with idiopathic central diabetes insipidus: a potential clue to elucidating a tumor etiology

Fujisawa,

Takeuchi,

Ishii

et al. 2023

Hormones

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Background Central diabetes insipidus (CDI) is a rare condition caused by various underlying diseases, including neoplasms, autoimmune diseases, and infiltrative diseases. Differentiating between CDI etiologies is difficult. What has initially been classified as “idiopathic” central diabetes insipidus might in fact underlie various pathogenic mechanisms that are less understood to date and/or are not obvious at initial presentation. Therefore, even if idiopathic CDI is diagnosed at the time of onset, it is common for tumors such as germinoma to develop during surveillance. Crucially, a delayed diagnosis of germinoma may be associated with a worse prognosis. Recently, the presence of anti–rabphilin-3A antibodies has been found to be a highly sensitive and specific marker of lymphocytic infundibuloneurohypophysitis, an autoimmune-mediated CDI. Case presentation We herein present two cases, namely, a 13-year-old boy (patient 1) and a 19-year-old young man (patient 2) who were diagnosed with idiopathic CDI. In both patients, panhypopituitarism developed. Magnetic resonance imaging revealed pituitary stalk thickening and pituitary swelling approximately 1 1/2 years after the onset of CDI. Western blotting did not reveal the presence of anti-rabphilin-3A antibodies in serum in either patient, suggesting that autoimmune mechanisms might not be involved. Both patients were subsequently diagnosed with germinoma on pathological examination. They received chemotherapy, followed by radiation therapy. Notably, testosterone and insulin-like growth factor-1 levels normalized, and libido and beard growth recovered after chemoradiotherapy in patient 2. Conclusion Our data suggest that the absence of anti-rabphilin-3A antibodies in young patients clinically diagnosed with idiopathic CDI may increase the probability of the development of non-lymphocytic lesions, including germinoma. We thus recommend a more attentive approach at the onset of these diseases.

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Studies on anti-rabphilin-3A antibodies in 15 consecutive patients presenting with central diabetes insipidus at a single referral center

Cited by 8 publications

References 54 publications

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

Two children with lymphocytic hypophysitis presenting with positive anti-rabphilin-3A antibody

Central diabetes insipidus with anti-rabphilin-3A antibody positivity causing hypovolemic shock after resection of tumorous lesions in the pelvic cavity

Absence of anti–rabphilin-3A antibodies in children and young adults with idiopathic central diabetes insipidus: a potential clue to elucidating a tumor etiology

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