Kearns‐Sayre syndrome presenting as renal tubular acidosis

Abstract

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.

Renal manifestations of primary mitochondrial disorders

“…TDFS was also reported in a 13-year-old female with KSS who additionally manifested with anhidrosis (26), as well as other patients (14,(27)(28)(29)(30)(31). In a 5-year-old male with KSS, the MID manifested with RTA (Table II) (32), which was also described in an 18-year-old female (Table II) (33). In a 10-year-old male with KSS, the MID manifested in the kidneys as renal tubular dysfunction with isosthenuria, decreased urine-concentrating ability, and excessive excretion of potassium and magnesium (34).…”

Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion

“…Her predominant symptom is severe renal tubular dysfunction, which has previously been associated with other mitochondrial disorders like Leigh syndrome (l9), mitochondrial myopathy (20)(21)(22). KSS (23,24) and also Pearson's syndrome (7). Although her tubular dysfunction has not recently progressed.…”

An Autopsy Case of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes Syndrome with Chronic Renal Failure.

“…The renal involvement associated with mitochondrial cytopathies has been well documented,with the most common abnormality being renal tubular dysfunction (2)(3)(4)(5)(6)(7)14). While renal tubular dysfunction is generally associated with a large deletion in mtDNAor rarely with duplication (2-7, 13-15), all the reported cases involving glomerular lesions were associated with the adenine to guanine transition at position 3243 of the mitochondrial tRNAleu gene (7-ll, 13, 17-19).…”

“…Renal involvement associated with mitochondrial encephalomyopathies has been described in clinical symptomatology, biopsy and molecular genetic studies (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15), but only a few cases with chronic renal failure have been reported, and detailed pathological studies of such cases are scarce. Wereport here an autopsy case of MELAS syndromewith chronic renal failure.…”