Related Experiment Video
Updated: Jan 20, 2026
08:40
Author Spotlight: A Novel 3D-Printed Titanium Implant for Minimally Invasive Treatment of Hip Dysplasia in Young Dogs
Published on: April 19, 2024
3.7K
Schimke Immuno-osseous Dysplasia: A Case Report
Amir Hossein Babaei1, Soroor Inaloo2, Mitra Basiratnia3
1Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
Indian Journal of Nephrology
|August 20, 2019
Summary
Schimke immuno-osseous dysplasia (SIOD) is a rare genetic disorder affecting kidneys, bones, and immunity. Early consideration of SIOD is vital for children presenting with diverse symptoms like nephrotic syndrome and developmental issues.
Area of Science:
- Pediatric Nephrology
- Rare Genetic Diseases
- Immunology
Background:
- Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder.
- It presents with a triad of steroid-resistant nephrotic syndrome, spondyloepiphyseal dysplasia, and T-cell immunodeficiency.
- Focal segmental glomerulosclerosis (FSGS) is the predominant renal pathology in SIOD.
Observation:
- This case report details a 4.5-year-old boy with SIOD.
- The patient exhibited nephrotic syndrome and a ventricular septal defect.
- Neurological complications, including tremor and cerebral infarction, were also noted.
Findings:
- The case highlights the varied clinical manifestations of SIOD.
- SIOD can present with significant renal, skeletal, cardiac, and neurological abnormalities.
- Early recognition is crucial for timely diagnosis and management.
Implications:
- SIOD should be suspected in children with unexplained nephrotic syndrome, growth retardation, and multi-system involvement.
- This emphasizes the importance of a comprehensive diagnostic approach for rare inherited diseases.
- Understanding the broad spectrum of SIOD presentation aids in early intervention and improved patient outcomes.
Related Concept Videos
01:24Data Reporting and Recording
5.3K
Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.3K
01:25Types of Reports I: Hands-off Report
1.5K
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K
01:21Types of Reports II: Incident or Occurrence Report
1.2K
An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
1.2K
01:26Types of Reports III: Telephone and Verbal Reports
991
Telephone and Verbal Reports in healthcare settings are two communication methods for conveying therapeutic instructions from healthcare providers to nurses or other healthcare staff.
Here's an overview of each type:
Telephone Orders
Here's an overview of each type:
Telephone Orders
991
02:11Reporter Genes
12.9K
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
12.9K
01:20Introduction to Documentation and Reporting
2.9K
Documentation is the systematic process of formally recording, maintaining, and communicating information.
Nursing documentation records essential information and details regarding a patient's care and treatment in written or electronic form. It is a critical aspect of nursing practice that involves documenting assessments, interventions, outcomes, and other relevant details about a patient's health status.
Documentation maps the patient's health journey by creating a comprehensive...
Nursing documentation records essential information and details regarding a patient's care and treatment in written or electronic form. It is a critical aspect of nursing practice that involves documenting assessments, interventions, outcomes, and other relevant details about a patient's health status.
Documentation maps the patient's health journey by creating a comprehensive...
2.9K