Renal Calculus in Floating-Harbor Syndrome: A Case Report

Area of Science:

• Genetics
• Nephrology
• Pediatrics

Background:

• Floating-Harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, distinctive facial features, and speech impairment.
• While typically sporadic, its genetic basis is increasingly understood.
• Renal abnormalities are infrequently reported in Floating-Harbor syndrome patients.

Observation:

• This report details the first known case of a patient diagnosed with Floating-Harbor syndrome who experienced spontaneous passage of kidney stones.
• The renal calculus was composed of both calcium oxalate monohydrate and calcium oxalate dihydrate.
• Renal ultrasound revealed additional findings including echotexture within the renal pyramids, hydronephrosis, and a renal cyst.

Findings:

• The primary finding is the association of kidney stone formation (renal calculus) with Floating-Harbor syndrome.
• This case highlights the potential for calcium oxalate nephrolithiasis in individuals with this condition.
• The presence of hydronephrosis and a renal cyst further characterizes the renal involvement.

Implications:

• Pediatric nurse practitioners and clinicians should be vigilant for renal abnormalities in patients with Floating-Harbor syndrome.
• Early recognition and management of potential renal complications, such as kidney stones, are crucial.
• This case expands the known clinical spectrum of Floating-Harbor syndrome, emphasizing the need for comprehensive patient monitoring.