NEPHROGENIC DIABETES INSIPIDUS

1. Two cases of congenital diabetes insipidus resistant to pitressin, or diabetes insipidus of the nephrogenic type, occurring in male cousins during infancy have been described in which the most striking manifestations were recurrent pyrexia, polyuria, polydipsia, poor weight gain and development and hyperelectrolytemia. 2. The basic defect in these patients appears to be renal; in the nature of an endorgan failure to respond to the antidiuretic hormone of the posterior pituitary body. 3. The demonstration of the trait in the mothers of the patients and probably an uncle and maternal grandmother suggests genetic transmission by means other than the previously postulated sex-linked recessive pattern. 4. The literature pertinent to this condition is reviewed and some of the clinical features and diagnostic problems are discussed.

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Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

Case Reports in Pediatrics ◽

10.1155/2018/6561952 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 2

Author(s):

Noriko Namatame-Ohta ◽

Shuntaro Morikawa ◽

Akie Nakamura ◽

Kumihiro Matsuo ◽

Masahide Nakajima ◽

...

Keyword(s):

Weight Gain ◽

Diabetes Insipidus ◽

Nephrogenic Diabetes Insipidus ◽

Japanese Patients ◽

Peripheral Blood Lymphocytes ◽

Recurrent Fever ◽

Nonsense Mutations ◽

Inactivation Pattern ◽

The Status ◽

Poor Weight Gain

Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age. Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C). These mutations were previously reported. The patient with c.316C > T; p.R106C had milder symptoms consistent with previous reports. Of the familial cases, the sister was diagnosed as having NDI, but a skewed X-inactivation pattern in her peripheral blood lymphocytes was not identified. In conclusion, our study expands the spectrum of phenotypes and characterized mutations in AVPR2 in NDI.

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Pengelolaan Central Diabetes Insipidus Pasca Cedera Kepala Berat

Jurnal Neuroanestesi Indonesia ◽

10.24244/jni.v8i2.219 ◽

2019 ◽

Vol 8 (2) ◽

pp. 99-104

Author(s):

Bona Akhmad Fithrah ◽

Marsudi Rasman ◽

Siti Chasnak Saleh

Keyword(s):

Traumatic Brain Injury ◽

Brain Injury ◽

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Central Diabetes Insipidus ◽

Young Generation ◽

Posterior Pituitary ◽

Challenging Problem ◽

Mortality And Morbidity ◽

Post Traumatic

Cedera otak traumatika adalah salah satu penyebab kematian dan kesakitan tersering pada kelompok masyarakat muda. Hasil akhir dari cedera kepala berat dapat menyebabkan gangguan kognitif, perilaku, psikologi dan sosial. Salah satu konsekuensi dari cedera kepala berat adalah terjadinya disfungsi hormonal baik dari hipofise anterior maupun posterior. Angka kejadian disfungsi hormonal ini sekitar 20-50%. Salah satu yang paling menantang dan sering terjadi adalah diabetes insipidus (DI) dan Syndrome inappropriate antidiuretic hormone (SIADH). Angka kejadian diabetes insipidus pasca cedera kepala diduga sebesar 1-2,9% dengan berbagai tingkatannya. Pada beberapa kasus bersifat sementara tapi beberapa kasus terjadi bersifat menetap. Pada laporan kasus ini akan dibawakan sebuah kasus diabetes insipidus pasca cedera kepala berat. Pasien mengalami cedera kepala berat, hingga dilakukan decompressive craniectomi dan trakeostomi. Untuk perawatan lanjutan pasien dirujuk ke Jakarta. Saat menjalani terapi lanjutan ini pasien terdiagnosis diabetes insipidus Pada kasus ini diabetes insipidus tidak timbul langsung setelah cedera kepala tetapi baru timbul lebih kurang satu bulan setelah cedera kepala. Diabetes insipidus dikelola dengan menggunakan desmopressin spray dan oral disamping mengganti cairan yang hilang. Pada kasus ini desmopressin sempat di stop sebelum akhirnya diberikan terus menerus dan pasien diterapi sebagai diabetes insipidus yang menetap. Managing Central Diabetes Insipidus in Post Severe Head Injury PatientAbstractTraumatic brain injury is the cause of mortality and morbidity in society mostly in male-young generation. The last outcome of traumatic brain injury might be deficit in cognitive, behavioral, psychological and social. the consequences of traumatic brain injury might be hormonal disfunction from anterior and posterior pituitary. The incidence around 20-50%. The most challenging problem is diabetes insipidus (DI) and syndrome of inappropriate antidiuretic hormone (SIADH). The incident of post traumatic diabetes insipidus around 1-2,9% with several degree. In certain case its only occurred transiently but some report it could be permanent. In this case report will find one case post traumatic diabetes insipidus. This pasien had severe traumatic brain injury and underwent decompressive craniectomy and tracheostomy. For further therapy patient was referred to Jakarta. In this further treatment patient diagnosed with diabetes insipidus. Diabetes insipidus doesn’t occurred since the first day of injury but occurred almost one month after. Diabetes insipidus managed with desmopressin spray and oral beside replace water loss. For a few days desmopressin stop but diabetes insipidus occurred again so desmopressin given daily both spray and oral and the patient had therapy as diabetes insipidus permanent.

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Evidence that Antidiuretic Substance in Plasma of Children with Nephrogenic Diabetes Insipidus Is Antidiuretic Hormone

JAMA ◽

10.1001/jama.1963.03710010157149 ◽

1963 ◽

Vol 186 (1) ◽

pp. 229

Keyword(s):

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Nephrogenic Diabetes Insipidus

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Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary adenosine 3?,5?-monophosphate in response to antidiuretic hormone

The Journal of Pediatrics ◽

10.1016/s0022-3476(84)80556-9 ◽

1984 ◽

Vol 104 (4) ◽

pp. 593-595 ◽

Cited By ~ 22

Author(s):

Takehiko Ohzeki ◽

Takashi Igarashi ◽

Akira Okamoto

Keyword(s):

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Nephrogenic Diabetes Insipidus ◽

Type Ii ◽

Familial Cases ◽

Congenital Nephrogenic Diabetes Insipidus

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EVIDENCE THAT THE ANTIDIURETIC SUBSTANCE IN THE PLASMA OF CHILDREN WITH NEPHROGENIC DIABETES INSIPIDUS IS ANTIDIURETIC HORMONE

PEDIATRICS ◽

10.1542/peds.32.3.384 ◽

1963 ◽

Vol 32 (3) ◽

pp. 384-388

Author(s):

Malcolm A. Holliday ◽

Charles Burstin ◽

Jean Harrah

Keyword(s):

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Nephrogenic Diabetes Insipidus ◽

Water Deprivation ◽

Jugular Vein ◽

Urine Osmolality ◽

Urine Flow ◽

Antidiuretic Activity ◽

Antecubital Vein ◽

Assay Technique

The antidiuretic activity in the plasma of four children with nephrogenic diabetes insipidus was measured by a rat assay technique. The evidence presented to indicate that this activity was due to antidiuretic hormone (ADH) was as follows: (a) the activity was higher in jugular vein plasma than in femoral or antecubital vein plasma, (b) it was high when the children were thirsted and decreased when they drank water, (c) it was destroyed when the plasma was incubated with thioglycollate, and (d) it was ultrafilterable, and vasopressin (Pitressin), when injected, was distributed as though it was ultrafilterable. When the children were given vasopressin, there was no change in urine flow or osmolality, but plasma antidiuretic activity was higher than it was when water deprivation led to a reduction in urine flow and an increase in urine osmolality. The inference of these findings is that ADH is secreted normally in children with nephrogenic diabetes insipidus, it is ultrafilterable, but it is not a factor in modifying urine flow in response to dehydration.

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THE CONTROL OF THE RENAL EXCRETION OF WATER

Journal of Experimental Medicine ◽

10.1084/jem.76.4.387 ◽

1942 ◽

Vol 76 (4) ◽

pp. 387-399 ◽

Cited By ~ 111

Author(s):

James A. Shannon

Keyword(s):

Experimental Data ◽

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Intravenous Infusion ◽

Renal Excretion ◽

Tubular Reabsorption ◽

Posterior Pituitary ◽

Hormone Administration ◽

Renal Tubular Reabsorption ◽

Renal Tubular

1. The administration of the posterior pituitary antidiuretic hormone by constant intravenous infusion has been used to examine the two characteristic actions of the hormone; namely, the facilitation of the active renal tubular reabsorption of water distally in the nephron and the inhibition of the renal tubular reabsorption of sodium proximally. 2. Experimental evidence was obtained which indicates that variations in the excretion of water and electrolyte involve the integration of these two actions with obscure variables which are discemible in the experimental data but are not subject to definition at this time. 3. Graded antidiuresis in the animal with diabetes insipidus, when normally hydrated, was only obtained in the range of 0.001 to 0.005 unit (pressor) per hour. This range of hormone administration was also found to be physiologically active in the normal animals. These observations together with others permit the placing of the normal rate of liberation of the antidiuretic hormone in a10 to 15 kilo dog in the range of 0.001 to 0.005 unit per hour.

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Urinary adenosine 3',5'-monophosphate (cAMP) response to antidiuretic hormone in diabetes insipidus (DI): comparison between congenital nephrogenic DI type 1 and 2, and vasopressin sensitive DI

Acta Endocrinologica ◽

10.1530/acta.0.1080485 ◽

1985 ◽

Vol 108 (4) ◽

pp. 485-490 ◽

Cited By ~ 8

Author(s):

Takehiko Ohzeki

Keyword(s):

Urinary Excretion ◽

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Arginine Vasopressin ◽

Nephrogenic Diabetes Insipidus ◽

The Other ◽

Familial Cases ◽

Before And After

Abstract. Urinary adenosine 3',5'-monophosphate (cAMP) excretion before and after administration of aqueous vasopressin (pitressin) and 1-deamino-8-d-arginine vasopressin (DDAVP) was measured in congenital nephrogenic and in vasopressin sensitive diabetes insipidus (VS-DI). Excretion of cAMP into the urine increased markedly in response to pitressin (676%) and to DDAVP (252%) in VS-DI. Nephrogenic diabetes insipidus (N-DI) could be divided into two categories (type 1 and type 2) in respect to urinary cAMP responsiveness. In type 1, cAMP excretion showed no definite change after stimulation with pitressin (102%) or DDAVP (127%). On the other hand, urinary excretion of cAMP was significantly elevated in response to DDAVP in familial cases of N-DI type 2 (1269%) without producing any concentrating effect on the urine. Two different defects are considered to be involved in the pathogenesis of N-DI.

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A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone

Clinical Kidney Journal ◽

10.1093/ndtplus/sfn192 ◽

2008 ◽

Vol 2 (2) ◽

pp. 127-129

Author(s):

A. Staffler ◽

M. R. Benz ◽

L. T. Weber ◽

A. Holzinger

Keyword(s):

Diabetes Insipidus ◽

Antidiuretic Hormone ◽

Nephrogenic Diabetes Insipidus ◽

Novel Mutation ◽

Congenital Nephrogenic Diabetes Insipidus ◽

Complete Resistance

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A short water deprivation test incorporating urinary arginine vasopressin estimations for the investigation of posterior pituitary function in children

Acta Endocrinologica ◽

10.1530/acta.0.1170013 ◽

1988 ◽

Vol 117 (1) ◽

pp. 13-18 ◽

Cited By ~ 24

Author(s):

D. B. Dunger ◽

J. R. Seckl ◽

D. B. Grant ◽

L. Yeoman ◽

S. L. Lightman

Keyword(s):

Diabetes Insipidus ◽

Arginine Vasopressin ◽

Nephrogenic Diabetes Insipidus ◽

Water Deprivation ◽

Posterior Pituitary ◽

Urinary Osmolality ◽

Water Drinking ◽

Group A ◽

Group B ◽

Urinary Concentrating Ability

Abstract. The value of a 7-h water deprivation test incorporating urinary osmolality and urinary arginine vasopressin (AVP) measurements was investigated in 20 children with suspected anterior or posterior pituitary dysfunction (group A) and 11 presenting with polyuria and polydipsia (group B). A control group of 16 healthy children was also studied. Urinary osmolalities in the control subjects after 7 h of water deprivation were 827–1136 mosmol/kg and urinary AVP 114–320 pmol/l. Of the group A patients, 5 had symptomatic diabetes insipidus with urinary osmolalities < 300 mosmol/kg, and urinary AVP concentrations of < 10 pmol/l, and 5 had normal urinary concentrating ability. The other 10 patients had varying degrees of partial diabetes insipidus (urinary AVP 6–53 pmol/l) although in 3 urinary concentrating ability was well maintained (osmolality 650–747 mosmol/kg). In group B, a diagnosis of compulsive water drinking was made in 9 patients, 1 had nephrogenic diabetes insipidus (urinary osmolality 68 mosmol/kg, AVP 782 pmol/l), and the final patient had transient diabetes insipidus. The test described was easy to perform and well tolerated even in young children. Using this test alone, it was possible to identify patients with partial defects of posterior pituitary function even when urinary concentrating ability was maintained, as well as those with complete cranial diabetes insipidus, nephrogenic diabetes insipidus, and compulsive water drinking.

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