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nephrogenic diabetes insipidus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephrogenic diabetes insipidus

MONDO:0016383

Also known as:ADH resistant diabetes insipidusdiabetes insipidus nephrogenicdiabetes insipidus nephrogenic X-linked

Find Clinical TrialsTrials

Overview

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 liters in children.

Clinical Trials3 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Nephrogenic diabetes insipidus; and very common findings: Hyposthenuria, Hypernatremia, and Hypernatremic dehydration. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Feeding difficulties, Nausea and vomiting, Constipation

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Hereditary nephrogenic diabetes insipidus (NDI) should be suspected in an individual with the following clinical and laboratory findings.

Clinical

Polyuria (excessive urine production)
Polydipsia (excessive drinking)
Family history of NDI

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for nephrogenic diabetes insipidus. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with hereditary nephrogenic diabetes insipidus (NDI), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Nephrogenic Diabetes Insipidus

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

There are no published guidelines available on recommended surveillance for children or adults with hereditary NDI. The frequency of follow up should take into consideration the medications being used and compliance with medications and diet recommendations.

Table 3.

Recommended Surveillance for Individuals with Hereditary Nephrogenic Diabetes Insipidus

System/Concern | Evaluation | Frequency

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 2 recruiting. Interventions under study include other interventions, drug therapy, and procedural interventions. Pipeline includes 1 PHASE1, 1 NA. Research is sponsored by a mix of industry and academic institutions.

93 publications have been identified in PubMed for nephrogenic diabetes insipidus. Research spans Case Report / Case Series (45%), Review / Meta-Analysis (26%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	42

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:223

GARD

Genetic and Rare Diseases Info Center

GARD:7178

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

nephrogenic diabetes insipidus

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Nephrology

Other

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Renal

Recent Publications

nephrogenic diabetes insipidus

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Nephrology

Other

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Renal

Recent Publications