Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Anwar Al Omairi; Amna Al Futaisi

doi:10.5001/omj.2023.32

Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Anwar Al Omairi, Amna Al Futaisi^*

^*Corresponding author for this work

Child Health

Research output: Contribution to journal › Article › peer-review

Abstract

Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.

Original language	English
Article number	e535
Pages (from-to)	e535-e535
Journal	Oman Medical Journal
Volume	38
Issue number	4
DOIs	https://doi.org/10.5001/omj.2023.32
Publication status	Published - Jul 31 2023

Keywords

Distal Renal Tubular Acidosis
Oman
Tuberous Sclerosis Complex
Urinary Stones

ASJC Scopus subject areas

General Medicine

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10.5001/omj.2023.32

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abstract = "Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.",

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AB - Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect. Tuberous sclerosis complex is an autosomal dominant inherited neurocutaneous syndrome with variable renal involvement. We describe a case of a six-year-old boy with tuberous sclerosis complex who developed distal RTA and renal stones.

KW - Distal Renal Tubular Acidosis

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KW - Urinary Stones

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Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Abstract

Keywords

ASJC Scopus subject areas

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