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Chemistry is the study of matter and the changes it undergoes. Matter is anything that has mass and occupies space. Matter is all around us; the air, water, soil, mountains, even our bodies are all examples of matter. Matter is divided into three states — solid, liquid, and gas — that are commonly found on earth. The fourth state of matter, plasma, occurs naturally in the interiors of stars.

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Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Andrew Tang¹, Laura Hinz¹, Aneal Khan²

¹Division of Endocrinology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada

Endocrinology, Diabetes & Metabolism Case Reports

|July 29, 2019

Summary

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare genetic disorder. This case highlights the importance of diagnosing hypophosphatemia, even with other electrolyte issues, for proper HHRH treatment.

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Published on: September 25, 2015

Area of Science:

Endocrinology
Genetics
Nephrology

Background:

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder.
It stems from mutations in the SLC34A3 gene, affecting phosphate reabsorption.
HHRH can present with hypercalcemia, potentially masking hypophosphatemia.

Purpose of the Study:

To present a case of HHRH diagnosed in adulthood.
To emphasize the diagnostic significance of hypophosphatemia in complex electrolyte imbalances.
To illustrate the genetic basis and clinical features of HHRH.

Main Methods:

Case report of a 21-year-old female with a history of nephrocalcinosis and intermittent hypercalcemia.
Review of patient's medical history, including childhood presentation and investigations.
Genetic testing confirming a homozygous SLC34A3 mutation (c.1483G>A, p.G495R).

Main Results:

The patient presented with short stature, nephrocalcinosis, and recurrent nephrolithiasis.
Persistent hypophosphatemia with phosphaturia and high-normal calcitriol were noted.
Genetic confirmation of HHRH due to SLC34A3 mutation.
Oral phosphate replacement normalized serum phosphate, calcium, and urine calcium.

Conclusions:

HHRH diagnosis requires careful evaluation of hypophosphatemia, even with hypercalcemia.
SLC34A3 mutations cause phosphate wasting, leading to rickets and hypercalciuria.
This case underscores the importance of genetic testing for HHRH and appropriate phosphate management.