Related Experiment Video
Updated: May 23, 2025

Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
Published on: June 21, 2024
Bones, Stones, and Hematuria - Connecting the Dots
Madhura P Fadnis1,2, Vijay Kalrao1, Suprita Kalra3,4
1Pediatrics, Bharati Hospital and Research Centre, Pune, Maharashtra, India.
Abstract:
We report a 12 yr old boy who presented with recurrent gross hematuria, polyuria and rickets with growth failure. Investigations showed bilateral renal calculi with small kidneys on ultrasonography along with hypercalciuria; hypomagnesemia and reduced kidney function. His younger sibling also had nephrocalcinosis hypomagnesemia. The genetic analysis done in view of recurrent renal calculi with chronic kidney disease showed a homozygous missense variant (c.392G>A) at exon 4 of CLDN 16 gene suggestive of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The younger sibling had a similar homozygous mutation and the parents were heterozygous carriers.
Related Concept Videos
Bone Markings
Articulating Projections
Articulating projections are found where two bones meet to form a joint. These structures are usually found at the ends of bones. The largest articulation is a rounded projection called the head, supported by a narrow neck at the ends of...
Blood and Nerve Supply to the Bones
Nutrient Artery
The nutrient artery is the main blood vessel that enters the diaphysis via the nutrient foramen. While most long bones have only one nutrient foramen, large bones, such as the femur, may have two. This...
Ureters
Renal Corpuscle
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Kidney Structure
The Bone Matrix

