The Korean Journal of Internal Medicine Vol. 29, No. 5 (Suppl. 1)
WCIM 2014 SEOUL KOREA 353
Poster Session
PS 1390 Nephrology
A Case of Tubulointerstitial Nephritis and Uveitis with Fanconi Syndrome
So Mi Kim1, Hye Young Jwa1 Jeju National University Hospital, Korea1
We report a case of tubulointerstitial nephritis and uveitis (TINU syndrome) with typical fanconi syndrome. A 46-year-oldwomen presented with febrile sense, general weakness, nausea and vomiting. She had a history of taking the medicine, NSAID due to headache for 5 days. Initial laboratory fi ndings revealed moderate renal dysfunction, normal anion gap metabolic acidosis, proteinuria, and hematuria. Renal biopsy was performed and severe tubulointerstitial nephritis was diagnosed. She was treated with oral steroid for 3 month and renal function and other laboratory fi ndings returned to normal. However, after 1 month since she stopped taking the steroid, she visited hos- pital with pain and redness of both eye. Slit lamp examination revealed acute bilateral panuveitis. In addition, laboratory fi ndings showed mild renal dysfunction and typical fanconi syndrome, proximal tubular defects including normal anion gap acidosis, renal glucosuria, hyperuricouria, hyperphosphturia and kaliuresis leading to hypokalemia.
She was retreated with steroid and laboratory fi ndings and ocular symptom improved.
TINU with fanconi syndrome is rare, and severe tubular dysfunction may need steroid therapy
PS 1391 Nephrology
A Case Report: Unilateral Dysplasia of Kidney with Klinefelter’s Syndrome
Gil Ho Lee1, In-Whee Park1, Joo-Sung Kim1, U-Ram Jin1, Young-Soo Lee1, Gyu-Tae Shin1, Heungsoo Kim1
Department of Nephrology, Ajou University School of Medicine, Korea1
Introduction: Klinefelter’s syndrome is the most common chromosomal abnormality associated with primary male hypogonadism and is known to be associated with con- genital abnormalities. A few patients with Klinefelter’s syndrome associated with renal abnormalities such as unilateral renal aplasia, renal cell carcinoma or chronic renal failure have been described yet. In Korea, there is one case report about Klinefelter’s syndrome associated with glomerular nephritis, but not unilateral dysplasia of kidney.
Herein we present a patient with Klinefelter’s syndrome associated with unilateral dysplasia of the kidney.
Case report: The patient was a 19 year old male who presented with asymptomatic proteinuria. He was diagnosed with Klinefelter’s syndrome (48, XXXY) in karyotype because he had been fl accid at birth. He had no past history of genitourinary disease such as urinary tract infection or urinary tract obstruction and no particular symptom associated with Klinefelter’s syndrome. In urinalysis, there was proteinuria (1+), but no evidence of hematuria. In the spot urine exam, the Protein/Creatinine ratio was 0.69.
In the blood test, an elevation of creatinine was noted (1.8 mg/dL). In the abdominal computed tomography, the length of the right kidney was 8.1 cm and the length of the left kidney was 10.8 cm suggesting a right renal dysplasia. In the Tc-99m Dieth- ylene Triamine Pentacetate(DTPA) kidney scan, the calculated GFR of the right Kidney was 18.1 ml/min (34%) and the calculated GFR of the left Kidney was 34.7 ml/min (66%). Those results mean a functional insuffi ciency of the right kidney.
Conclusion: Herein we present a patient with Klinefelter’s syndrome associated with unilateral dysplasia of the kidney. Further study will be needed on the relationship be- tween Klinefelter’s syndrome and renal insuffi ciency.
PS 1392 Nephrology
A Rare Case of Hyperoxaluria Presenting with Liver Dysfunction and Stone-Free Kidney Injury
Si-eun Kim1, Ran-hui Cha1, Seon-Jae Kim1, Seong Taek Chu1, Seung Hee Yang2, Yon Su Kim3
Department of Internal Medicine, National Medical Center, Korea1, Kidney Research Institute, Seoul Na- tional University College of Medicine, Korea2, Department of Internal Medicine, Seoul National University College of Medicine, Korea3
Background: Oxalate nephropathy is an unusual cause of acute or chronic renal fail- ure. Hyperoxaluria can develop in patients with inborn disorders of oxalate metabolism (primary hyperoxaluria) or secondary to other diseases (secondary hyperoxaluria).
Hyperoxaluria accompanied by acute hepatitis has not been previously reported. We report a patient with acute kidney injury accompanied with acute hepatitis and hyper- oxaluria.
Case presentation: A 49-year-old Asian woman visited the clinic because of acute hepatitis and oliguric acute kidney injury presenting microscopic hematuria and pro- teinuria. She denied having any previous medical problems, use of regular medications, or intake of unusual foods or beverages. Laboratory values were as follows: BUN 81 mg/dL, serum creatinine 11.4 mg/dL, SGOT 695 U/L, SGPT 1,181 U/L, total bilirubin 1.2 mg/dL, INR 0.97. An abdominal CT revealed a localized, hypo-attenuated lesion in a hepatic lateral segment, and kidney biopsy showed oxalate crystal deposition with tubular necrosis. In addition, the patient’s 24-hour urinary excretion of oxalate was increased [oxalate 68 mg/24 hours (reference: 4-31 mg/24 hours)]. Her renal function and liver injury improved after several sessions of hemodialysis and urinary oxalate excretion was normalized. A genetic analysis for major mutations associated with primary hyperoxaluria types 1 and 2 was performed. There were no meaningful muta- tions.
Discussion: If crystal deposition is found on the kidney biopsy without any evidence of other renal diseases, oxalosis should be considered, and appropriate evaluations, including urine oxalate excretion, should be performed. If secondary hyperoxaluria can be excluded, primary hyperoxaluria should be considered to be a possibility, and evaluations, including genetic analysis, should be performed. Also, additional studies on the temporary dysfunction of liver-specifi c enzymes due to hepatitis as a cause of increased oxalate formation could be of broader interest.
