Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis

H. William Schnaper; Jill Cottel; Suzanne Merrill; Eric Marcusson; John M. Kissane; Gary D. Shackelford; Samuel K S So; Raoul D. Nelson; Barbara R. Cole; Margaret L. Smith; Jerry A. Schneider

doi:10.1016/S0022-3476(05)82486-2

Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis

H. William Schnaper^*, Jill Cottel, Suzanne Merrill, Eric Marcusson, John M. Kissane, Gary D. Shackelford, Samuel K S So, Raoul D. Nelson, Barbara R. Cole, Margaret L. Smith, Jerry A. Schneider

^*Corresponding author for this work

Pediatrics

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

13 Scopus citations

Abstract

We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.

Original language	English (US)
Pages (from-to)	575-578
Number of pages	4
Journal	The Journal of pediatrics
Volume	120
Issue number	4 PART 1
DOIs	https://doi.org/10.1016/S0022-3476(05)82486-2
State	Published - Apr 1992

Funding

A pale, fair-skinned, 10-month-old girl with thin, blond hair was seen at St. Louis Children's Hospital with severe growth failure, renal tubular acidosis, phosphaturia, and proteinuria (2+). Her blood urea nitrogen level was 1.4 mmol/L (4 mg/dl) and her se- Supported in part by grant No. PHS DK 18434 from the National Institutes of Health, Summer Science Research Program for Medical Students grant No. 8 FY91-9 from the March of Dimes-Birth Defects Foundation (to J.C.), the Cystinosis Foundation, the Bernard L. Maas Foundation, Mr. Peter Solomon, and the ESHE Fund. Received for publication Sept. 9, 1991; accepted Oct. 29, 1991. Reprint requests: H. William Schnaper, MD, Department of Nephrology, Children's National Medical center, 111 Michigan Ave., N.W., Washington, DC 20010.

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(05)82486-2

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title = "Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis",

abstract = "We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.",

author = "Schnaper, \{H. William\} and Jill Cottel and Suzanne Merrill and Eric Marcusson and Kissane, \{John M.\} and Shackelford, \{Gary D.\} and So, \{Samuel K S\} and Nelson, \{Raoul D.\} and Cole, \{Barbara R.\} and Smith, \{Margaret L.\} and Schneider, \{Jerry A.\}",

note = "Funding Information: A pale, fair-skinned, 10-month-old girl with thin, blond hair was seen at St. Louis Children's Hospital with severe growth failure, renal tubular acidosis, phosphaturia, and proteinuria (2+). Her blood urea nitrogen level was 1.4 mmol/L (4 mg/dl) and her se- Supported in part by grant No. PHS DK 18434 from the National Institutes of Health, Summer Science Research Program for Medical Students grant No. 8 FY91-9 from the March of Dimes-Birth Defects Foundation (to J.C.), the Cystinosis Foundation, the Bernard L. Maas Foundation, Mr. Peter Solomon, and the ESHE Fund. Received for publication Sept. 9, 1991; accepted Oct. 29, 1991. Reprint requests: H. William Schnaper, MD, Department of Nephrology, Children's National Medical center, 111 Michigan Ave., N.W., Washington, DC 20010.",

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doi = "10.1016/S0022-3476(05)82486-2",

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AU - Cottel, Jill

AU - Merrill, Suzanne

AU - Marcusson, Eric

AU - Kissane, John M.

AU - Shackelford, Gary D.

AU - So, Samuel K S

AU - Nelson, Raoul D.

AU - Cole, Barbara R.

AU - Smith, Margaret L.

AU - Schneider, Jerry A.

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AB - We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.

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Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis

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