Focal segmental glomerulosclerosis in association with Gitelman syndrome

Area of Science:

• Nephrology
• Genetics
• Pathology

Background:

• Gitelman syndrome (GS) is an inherited renal tubular disorder.
• GS typically presents with electrolyte imbalances: hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
• Kidney disease beyond tubular dysfunction is infrequently reported in GS.

Observation:

• This report details an adult patient diagnosed with Gitelman syndrome.
• The patient underwent a renal biopsy as part of their diagnostic workup.
• The biopsy findings revealed focal segmental glomerulosclerosis (FSGS).

Findings:

• The renal biopsy confirmed focal segmental glomerulosclerosis (FSGS) in an adult patient with Gitelman syndrome.
• This finding is uncommon, as GS is primarily known for tubular defects, not glomerular disease.
• The co-occurrence suggests a potential, though rare, link between GS and FSGS.

Implications:

• This case expands the known clinical spectrum of Gitelman syndrome.
• It underscores the importance of considering glomerular pathology in GS patients, even if rare.
• Further research may elucidate shared genetic or pathophysiological mechanisms between GS and FSGS.