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Related Concept Videos

Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Cushing Syndrome I: Introduction01:26

Cushing Syndrome I: Introduction

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

Galloway-Mowat syndrome.

Naureen Akhtar1, Sadia Kiran, Farkhanda Hafeez

  • 1Department of Paediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore, Pakistan. naureenakhtar@hotmail.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|September 19, 2008
PubMed
Summary

Galloway-Mowat syndrome is a rare genetic disorder affecting multiple body systems. This case report details a young boy with congenital microcephaly, developmental delay, seizures, and dysmorphic features, who later developed nephrotic syndrome.

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Area of Science:

  • Genetics
  • Pediatrics
  • Nephrology

Background:

  • Galloway-Mowat syndrome is a rare genetic disorder characterized by multisystem abnormalities.
  • It presents with a constellation of neurological, skeletal, growth, facial, gastrointestinal, and renal issues.

Observation:

  • This case report focuses on a young boy with congenital microcephaly.
  • The patient exhibited developmental delay, seizures, and various dysmorphic features.

Findings:

  • Nephrotic syndrome manifested in the patient at 5 years of age.
  • This highlights a significant renal complication in Galloway-Mowat syndrome.

Implications:

  • This case underscores the importance of comprehensive monitoring in Galloway-Mowat syndrome.
  • Early identification of renal involvement, such as nephrotic syndrome, is crucial for management.