Abstract: PUB294
Cystinosis Presenting with Complications in an Adult: A Difficult Case
Session Information
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Masood, Abdullah, Trinitas Regional Medical Center, Elizabeth, New Jersey, United States
- Polyak, Andrew, Trinitas Regional Medical Center, Elizabeth, New Jersey, United States
- Moskovits, Aryeh, Trinitas Regional Medical Center, Elizabeth, New Jersey, United States
- Banayat, Geronimo E., Trinitas Regional Medical Center, Elizabeth, New Jersey, United States
Introduction
Cystinosis is a rare autosomal recessive disease caused by a defect in lysosomal transport protein causing accumulation of cysteine in lysosomes which causes multiple deleterious effects in body organs, especially the kidneys and eyes. It is the most common cause of Fanconi syndrome in children. It is caused by mutations in the CTNS gene, which encodes the lysosomal cystine carrier protein cystinosin. Incidence is generally 1:200000 but up to 1:3000 in certain consanguineous populations. Herein we present a case of a 21 y/o M with cystinosis presenting with status epilepticus and AKI on CKD requiring haemodialysis.
Case Description
A 21 y/o M with PMH of cystinosis with CKD, HTN and seizures came to the ED with bradypnea and status epilepticus. Vitals were: Temp 98.3, Pulse 106, RR 10, BP 132/67. Labs were Na 137, K 3.4, Cl 97, HCO3 19, AGAP 21, Cr 4.42, BUN 20 Urine pH 5.5, Urine Cl 31.8, Urine K 39, Urine Na 33 UAG 27.6. US kidney was normal, MRI brain showed no acute changes. Patient was on levocarnitine and cysteamine at home and had not required haemodialysis yet. At this admission, he had COVID-19 and aspiration pneumonia secondary to the seizures leading to VDRF. He was started on Keppra and Meropenem. Patient developed severe hyperchloremic, hypokalaemic metabolic acidosis with polyuria and was started on dialysis. Amiloride was started as well. Patient improved, electrolytes became stable and was extubated to trach, PEG tube placed for feeding and discharged to LTAC.
Discussion
Cystinosis was first described in 1903 in Switzerland but evidence of the mutation is nearly 2000 years old. It can be divided into infant, juvenile, and ophthalmopathy type. Our patient had the infant type which kidney disease is the most common. This patient had a preexisting diagnosis but generally spectrometric detection of cysteine in WBC, slit lamp and gene studies can be used to diagnose. Cysteine depleting therapy like cysteamine bitartrate delays the progression to ESRD as seen in this patient. Carnitine supplementation has not really shown much improvement in outcomes. Kidney transplant however shows an excellent prognosis in this disease. Cysteinosis remains an enigmatic disease with few case reports and epidemiological studies in adults. Much more study is needed to truly tackle the new adult population living with this disease with monitoring and treatment.