Related Experiment Video

Updated: Jun 30, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

Guido Currarino1

  • 1Department of Radiology, Texas Scottish Rite Hospital, 2222 Welborn St., Dallas, TX 75219, USA. guidonellie@mac.com

Pediatric Radiology
|September 26, 2008
PubMed

Insights

Serpentine fibula polycystic kidney syndrome (SFPKS), characterized by craniofacial and kidney anomalies, is linked to Hajdu-Cheney syndrome (HCS). This report details a new SFPKS case and reviews clinical features of both conditions.

Area of Science:

  • Genetics and rare diseases
  • Skeletal dysplasias
  • Nephrology

Background:

  • Hajdu-Cheney syndrome (HCS) is a rare genetic disorder with diverse clinical manifestations.
  • Serpentine fibula polycystic kidney syndrome (SFPKS) describes a specific association of anomalies including craniofacial, musculoskeletal, and renal abnormalities.
  • Previous interpretations suggest SFPKS may be a variant or manifestation of HCS.

Observation:

  • Six patients with craniofacial anomalies, elongated and bowed (serpentine) fibulae, and polycystic kidneys were identified.
  • A new case exhibiting this distinct constellation of symptoms was documented.
  • Clinical and radiographic data from these patients were collected for analysis.

Findings:

  • The reported cases support the classification of SFPKS as a manifestation of Hajdu-Cheney syndrome (HCS).
  • Detailed clinical and radiographic features of HCS were reviewed in the context of SFPKS.
  • The study consolidates understanding of the phenotypic spectrum of HCS.

Implications:

  • This research aids in the diagnosis and management of patients with SFPKS and HCS.
  • It highlights the importance of recognizing specific anomaly clusters for accurate genetic diagnosis.
  • Further research into the molecular basis of HCS and its variants is warranted.

More Related Videos

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Related Concept Videos

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Nephrons01:10

Nephrons

The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma happens...
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
External Anatomy of the Kidney01:21

External Anatomy of the Kidney

The kidneys are a pair of bean-shaped organs in the human body that play a critical role in maintaining overall health. They filter out waste products from the blood, regulate blood pressure, maintain electrolyte balance, and stimulate the production of red blood cells.
The kidneys are located in the retroperitoneal space on either side of the vertebral column, protected posteriorly by the 11th and 12th ribs. The right kidney sits slightly lower than the left owing to the presence of the liver...
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...