Utilizing clinical case material of children with diabetes insipidus (DI), this concise, practical pocket guide will provide clinicians with the best real-world strategies to properly diagnose and manage the various manifestations of the disorder they may encounter. It presents a detailed cross-section of pediatric patients, with different etiologies of the disease and possible complications, to provide sensible management scenarios to physicians treating patients with DI. The cases presented include diagnostic strategies and radiological findings for familial and nephrogenic DI as well as DI resulting from hypophysitis, germ cell tumors, Rathkes Cleft Cysts, Langerhans Cell Histiocytosis, craniopharyngiomas, genetic causes, and congenital malformations. Each case focuses on a specific learning objective with clinical pearls, and together these cases represent a comprehensive understanding of children with DI from many aspects.
Managing pediatric patients with DI is a threefold challenge of determining the diagnosis, etiology and treatment. Pragmatic and reader-friendly, Diabetes Insipidus in Children is an excellent resource to assist endocrinologists and other clinicians caring for patients with this disease.
Author(s): Craig A. Alter
Publisher: Springer
Year: 2021
Language: English
Pages: 210
City: Cham
Foreword
Acknowledgments
Introduction
Contents
Contributors
1: Primary Polydipsia
Case Presentation
Assessment and Diagnosis
Management
Complications
References
2: Diagnosing DI (The Water Deprivation Test)
Case
Water Deprivation Test
Concept
History
Limitations
Additional Testing
AVP
Copeptin
Patient Selection and Testing Protocol and Interpretation
Preparation Prior To Admission
On Admission
At Any Time During the Test (See Fig. 2.1)
Assessment of Response to Vasopressin
Our Patient
Summary
References
3: MRI Lesions in Diabetes Insipidus
Introduction
Normal MRI Appearance of the Pituitary Gland (Fig. 3.1)
MRI Findings in a Child with Diabetes Insipidus
Langerhans Cell Histiocytosis (LCH)
Hypophysitis
Germ Cell Tumors (GCT)
Rathke Cleft Cysts (RCC)
Craniopharyngioma
Other Tumors
Congenital Abnormalities in the Pituitary/Hypothalamic Region Causing DI
Ectopic Posterior Pituitary (EPP)
Septo-optic Dysplasia (SOD)
Inflammatory and Infectious Conditions
Summary
References
4: Central Diabetes Insipidus with Pituitary Stalk Thickening
Case Description
Assessment and Diagnosis
Management
Outcome
References
5: Hypophysitis
Vignette
Chapter Write-Up
Description/Incidence
Classifications
Difference from Adults
Laboratory and Imaging Studies
Histologic Findings
Natural History
Differential
Treatment
Utility of Autoantibodies
Imaging Findings Over Time
Anterior Pituitary Hormone Deficiency (APHD) Over Time
Conclusion
References
6: Germ Cell Tumors
Case Presentation #1
Case Presentation #2
Discussion
Management
References
7: The Gist of a Rathke’s Cleft Cyst
Case
Clinical Impression after Initial Results and Consultation
Bibliography
8: Langerhans Cell Histiocytosis and Diabetes Insipidus
Clinical Case Presentation
Case #1
Case #2
Introduction
Presentation, Diagnosis, Classification, and Therapy
Pituitary Involvement, Endocrine Dysfunction, and Neurodegeneration in LCH
References
9: Craniopharyngioma and Diabetes Insipidus
Case Presentation
Assessment and Diagnosis
Management
Outcome
References
10: Diabetes Insipidus After Craniopharyngioma Resection
Case Presentation
Discussion
References
11: Partial Central Diabetes Insipidus Following Endonasal Biopsy
Case Presentation
Assessment and Diagnosis
Management
Outcome
References
12: Septo-optic Dysplasia Spectrum
Case Description
Assessment and Diagnosis
Management
Outcome
References
13: Familial DI and Genetic Workup
Case Presentation
Assessment and Diagnosis
Management
Outcome
References
14: Treatment with Thiazides in Infants with Central Diabetes Insipidus
Case Presentation
Assessment and Diagnosis
Management
Outcome
References
15: Absent Thirst and Diabetes Insipidus
Case Presentation
Assessment and Diagnosis
Management
Outcome
References
16: Nephrogenic Diabetes Insipidus
Case
Discussion
Congenital Nephrogenic DI
AVPR2 Gene Mutations
AQP2 Gene Mutations
Current Management Approaches for NDI
Nutrition
Diuretics
Non-steroidal Anti-inflammatory Drugs (NSAID)
Possible Future Precision Medicine Through Targeted Gene Therapy Strategies
Acquired NDI
Amyloidosis
Granuloma-Associated Conditions (Sarcoidosis and Histiocytosis)
Sjogren Syndrome
Sickle Cell Disease (SCD)
Drugs
Lithium
Ifosfamide
Foscarnet
Antibiotics
Other Disorders Associated with NDI
Hypokalemia
Fabry Disease
References
Index
