scholarly journals A case of central diabetes insipidus due to neurophysin II gene abnormality diagnosed based on a family history of nocturnal enuresis

2021 ◽  
Author(s):  
Lucia Sugawara ◽  
Takaaki Nakamura ◽  
Yoshitaka Ishizuka ◽  
Hiroshi Maegawa
Keyword(s):  
Family History ◽  
Diabetes Insipidus ◽  
Nocturnal Enuresis ◽  
Central Diabetes Insipidus ◽  
History Of ◽  
Neurophysin Ii

scholarly journals Pregnancy may favour the development of severe autoimmune central diabetes insipidus in women with vasopressin cell antibodies: description of two cases

2015 ◽  
Vol 172 (3) ◽  
pp. K11-K17 ◽  
Author(s):  
Giuseppe Bellastella ◽  
Antonio Bizzarro ◽  
Ernesto Aitella ◽  
Mariluce Barrasso ◽  
Domenico Cozzolino ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Post Partum ◽  
Central Diabetes Insipidus ◽  
Pituitary Function ◽  
Unsuccessful Attempt ◽  
Function Recovery ◽  
History Of ◽  
In Pregnancy

Recently, an increased incidence of central diabetes insipidus (CDI) in pregnancy, and less frequently in thepost partumperiod, has been reported, most probably favoured by some conditions occurring in pregnancy. This study was aimed at investigating the influence of pregnancy on a pre-existing potential/subclinical hypothalamic autoimmunity. We studied the longitudinal behaviour of arginine–vasopressin cell antibodies (AVPcAbs) and post-pituitary function in two young women with a positive history of autoimmune disease and presence of AVPcAbs, but without clinical CDI, and who became pregnant 5 and 7 months after our first observation. The behaviour of post-pituitary function and AVPcAbs (by immunofluorescence) was evaluated at baseline, during pregnancy and for 2 years after delivery. AVPcAbs, present at low/middle titres at baseline in both patients, showed a titre increase during pregnancy in one patient and after delivery in the other patient, with development of clinically overt CDI. Therapy with 1-deamino-8-d-arginine vasopressin (DDAVP) caused a prompt clinical remission. After a first unsuccessful attempt of withdrawal, the therapy was definitively stopped at the 6th and the 7th month ofpost partumperiod respectively, when AVPcAbs disappeared, accompanied by post-pituitary function recovery, persisting until the end of the follow-up. The determination of AVPcAbs is advisable in patients with autoimmune diseases planning their pregnancy, because they could be considered good predictive markers of gestational orpost partumautoimmune CDI. The monitoring of AVPcAb titres and post-pituitary function during pregnancy in these patients may allow for an early diagnosis and an early replacement therapy, which could induce the disappearance of these antibodies with consequent complete remission of CDI.

scholarly journals Congenital nephrogenic diabetes insipidus in a baby girl.

1978 ◽  
Vol 53 (11) ◽  
pp. UNKNOWN-UNKNOWN ◽  
Author(s):  
R L Schreiner ◽  
P R Skafish ◽  
S K Anand ◽  
J D Northway
Keyword(s):  
Family History ◽  
Cyclic Amp ◽  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Baby Girl ◽  
Congenital Nephrogenic Diabetes Insipidus ◽  
History Of ◽  
Concentrate Urine ◽  
Urinary Cyclic Amp

A 6-week-old girl with fever, hypernatraemia, dehydration, and polyuria failed to concentrate urine in response to exogenous vasopressin administration. There was no family history of nephrogenic diabetes insipidus. When she was 15 months old, the infusion of vasopressin did not produce an increase in urinary cyclic-AMP.

scholarly journals Early-onset central diabetes insipidus is associated with de novo arginine vasopressin–neurophysin II or Wolfram syndrome 1 gene mutations

2015 ◽  
Vol 172 (4) ◽  
pp. 461-472 ◽  
Author(s):  
Silverio Perrotta ◽  
Natascia Di Iorgi ◽  
Fulvio Della Ragione ◽  
Saverio Scianguetta ◽  
Adriana Borriello ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Early Onset ◽  
De Novo ◽  
Novel Mutation ◽  
Wolfram Syndrome ◽  
Central Diabetes Insipidus ◽  
Nucleotide Position ◽  
Exon 2 ◽  
Neurophysin Ii

ObjectiveIdiopathic early-onset central diabetes insipidus (CDI) might be due to mutations of arginine vasopressin–neurophysin II (AVP–NPII (AVP)) or wolframin (WFS1) genes.Design and methodsSequencing of AVP and WFS1 genes was performed in nine children with CDI, aged between 9 and 68 months, and negative family history for polyuria and polydipsia.ResultsTwo patients carried a mutation in the AVP gene: a heterozygous G-to-T transition at nucleotide position 322 of exon 2 (c.322G>T) resulting in a stop codon at position 108 (p.Glu108X), and a novel deletion from nucleotide 52 to 54 (c.52_54delTCC) producing a deletion of a serine at position 18 (p.Ser18del) of the AVP pre-prohormone signal peptide. A third patient carried two heterozygous mutations in the WFS1 gene localized on different alleles. The first change was A-to-G transition at nucleotide 997 in exon 8 (c.997A>G), resulting in a valine residue at position 333 in place of isoleucine (p.Ile333Val). The second novel mutation was a 3 bp insertion in exon 8, c.2392_2393insACG causing the addition of an aspartate residue at position 797 and the maintenance of the correct open reading frame (p. Asp797_Val798insAsp). While similar WFS1 protein levels were detected in fibroblasts from healthy subjects and from the patient and his parents, a major sensitivity to staurosporine-induced apoptosis was observed in the patient fibroblasts as well as in patients with Wolfram syndrome.ConclusionsEarly-onset CDI is associated with de novo mutations of the AVP gene and with hereditary WFS1 gene changes. These findings have valuable implications for management and genetic counseling.

scholarly journals One too many diabetes: the combination of hyperglycaemic hyperosmolar state and central diabetes insipidus

2018 ◽  
Vol 2018 ◽  
Author(s):  
Snezana Burmazovic ◽  
Christoph Henzen ◽  
Lukas Brander ◽  
Luca Cioccari
Keyword(s):  
Diabetes Mellitus ◽  
Glycaemic Control ◽  
Specific Gravity ◽  
Diabetes Insipidus ◽  
Urine Osmolality ◽  
Central Diabetes Insipidus ◽  
Urine Specific Gravity ◽  
List Type ◽  
Poor Glycaemic Control ◽  
History Of

Summary The combination of hyperosmolar hyperglycaemic state and central diabetes insipidus is unusual and poses unique diagnostic and therapeutic challenges for clinicians. In a patient with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology that is considered, and achieving glycaemic control remains the first course of action. However, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and urine osmolality suggest concurrent symptomatic diabetes insipidus. We report a rare case of concurrent manifestation of hyperosmolar hyperglycaemic state and central diabetes insipidus in a patient with a history of craniopharyngioma. Learning points: In patients with diabetes mellitus presenting with polyuria and polydipsia, poor glycaemic control is usually the first aetiology to be considered. However, a history of craniopharyngioma, severe hypernatraemia, hyperglycaemia and discordance between urine-specific gravity and osmolality provide evidence of concurrent diabetes insipidus. Therefore, if a patient with diabetes mellitus presents with severe hypernatraemia, hyperglycaemia, a low or low normal urinary-specific gravity and worsening polyuria despite correction of hyperglycaemia, concurrent diabetes insipidus should be sought.

scholarly journals Rare occurrence of central diabetes insipidus with dermatomyositis in a young male

2020 ◽  
Vol 2020 ◽  
Author(s):  
Aishah Ekhzaimy ◽  
Afshan Masood ◽  
Seham Alzahrani ◽  
Waleed Al-Ghamdi ◽  
Daad Alotaibi ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Inflammatory Myopathy ◽  
Young Male ◽  
Central Diabetes Insipidus ◽  
Endocrine Disorders ◽  
Extensive Literature ◽  
List Type ◽  
Autoimmune Conditions ◽  
History Of ◽  
Autoimmune Condition

Summary Central diabetes insipidus (CDI) and several endocrine disorders previously classified as idiopathic are now considered to be of an autoimmune etiology. Dermatomyositis (DM), a rare autoimmune condition characterized by inflammatory myopathy and skin rashes, is also known to affect the gastrointestinal, pulmonary, and rarely the cardiac systems and the joints. The association of CDI and DM is extremely rare. After an extensive literature search and to the best of our knowledge this is the first reported case in literature, we report the case of a 36-year-old male with a history of CDI, who presented to the hospital’s endocrine outpatient clinic for evaluation of a 3-week history of progressive facial rash accompanied by weakness and aching of the muscles. Learning points: Accurate biochemical diagnosis should always be followed by etiological investigation. This clinical entity usually constitutes a therapeutic challenge, often requiring a multidisciplinary approach for optimal outcome. Dermatomyositis is an important differential diagnosis in patients presenting with proximal muscle weakness. Associated autoimmune conditions should be considered while evaluating patients with dermatomyositis. Dermatomyositis can relapse at any stage, even following a very long period of remission. Maintenance immunosuppressive therapy should be carefully considered in these patients.

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