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Disease Profile
Nephrogenic diabetes insipidus
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
N25.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Diabetes insipidus nephrogenic; Diabetes insipidus nephrogenic type 1; Vasopressin-resistant diabetes insipidus;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Metabolic disorders
Summary
Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to produce a large amount of urine. Nephrogenic diabetes insipidus occurs when the kidney tubules, which allow water to be removed from the body or reabsorbed, do not respond to a chemical in the body called antidiuretic
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
100% of people have these symptoms | ||
Nephrogenic diabetes insipidus | 0009806 | |
80%-99% of people have these symptoms | ||
Hypernatremia |
High blood sodium levels
|
0003228 |
Hypernatremic dehydration | 0004906 | |
Hyposthenuria | 0003158 | |
30%-79% of people have these symptoms | ||
Anorexia | 0002039 | |
Constipation | 0002019 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fever | 0001945 | |
Nausea and vomiting | 0002017 | |
Polydipsia |
Extreme thirst
|
0001959 |
5%-29% of people have these symptoms | ||
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hydroureter | 0000072 | |
Hypovolemia |
Depleted blood volume
|
0011106 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
0001250 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
1%-4% of people have these symptoms | ||
Enuresis nocturna | 0010677 | |
Global |
0001263 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Percent of people who have these symptoms is not available through HPO | ||
Diabetes insipidus | 0000873 | |
Feeding difficulties in infancy | 0008872 | |
Hypertonic dehydration | 0001986 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Irritability |
Irritable
|
0000737 |
Megacystis | 0000021 | |
Neonatal onset | 0003623 | |
Polyuria |
Increased urine output
|
0000103 |
Unexplained fevers | 0001955 | |
Vomiting |
Throwing up
|
0002013 |
0001419 |
Cause
The hereditary form of nephrogenic diabetes insipidus is caused by genetic
Diagnosis
Treatment
The basis of management involves free access to drinking water and toilet facilities. The polyuria can be lowered with a low-salt (sodium), low
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Nephrogenic Diabetes Insipidus Foundation
P.O. Box 1390
Eastsound, WA 98245
Telephone: 888-376-6343
Fax: 888-376-6356
E-mail: [email protected]
Website: https://www.ndif.org/
Organizations Providing General Support
-
Histiocytosis Association
332 North Broadway
Pitman, NJ 08071
Toll-free: 1-800-548-2758 (from US and Canada)
Telephone: +1-856-589-6606
Fax: +1-856-589-6614
E-mail: [email protected]
Website: https://www.histio.org/ -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Nephrogenic diabetes insipidus. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Nephrogenic diabetes insipidus. Click on the link to view a sample search on this topic.
References
- Khardori R. Diabetes Insipidus. Medscape Reference. 2016; https://emedicine.medscape.com/article/117648-overview.
- Diabetes insipidus nephrogenic. Medlineplus. June 2010; https://www.nlm.nih.gov/medlineplus/ency/article/000511.htm.
- Nephrogenic diabetes insipidus. Genetics Home Reference. April 2010; https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus.
- Knoers N. Nephrogenic Diabetes Insipidus. GeneReviews. 2010; https://www.ncbi.nlm.nih.gov/books/NBK1177/.
- McMillan JI. Nephrogenic Diabetes Insipidus. Merck Manual. 2016; https://www.merckmanuals.com/professional/genitourinary-disorders/renal-transport-abnormalities/nephrogenic-diabetes-insipidus.
- Bichet DG. Treatment of nephrogenic diabetes insipidus. UpToDate. January 07, 2016; https://www.uptodate.com/contents/treatment-of-nephrogenic-diabetes-insipidus.
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