Abstract: PO1526
A Novel Case of Turner Syndrome and Autosomal Dominant Polycystic Kidney
Session Information
- Cystic Kidney Diseases: Mechanisms, Genetics, and Treatment
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 1001 Genetic Diseases of the Kidneys: Cystic
Authors
- Styer, Rachel, Departments of Pediatrics, Texas A&M Health Science Center, Baylor Scott & White McLane Children Medical Center, Temple, Texas, United States
- Hashim, Faris Q., Division of Pediatric Nephrology, Texas A&M Health Science Center, Baylor Scott & White McLane Children Medical Center, Temple, Texas, United States
Introduction
Turner Syndrome (TS) is a sex chromosome disorder resulting from the complete or partial loss of one of the X chromosomes. Short stature is common feature of TS and is commonly treated with growth hormone (GH). Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem disease that has bilateral renal cysts and is an important cause of end stage renal disease (ESRD).
Case Description
A 5-y/o girl with TS with 45 XO, treated with GH since the age 2 yr with good clinical response. She presented to nephrology clinic for evaluation of bilateral large kidneys for age (RK 10.0 cm, LK 9.7 cm) per recent renal ultrasound (US). No hypertension was found on her exam. Family History was negative for polycystic kidney disease (PKD), hypertension, renal disease, hemodialysis, renal transplant or intracranial aneurysms. On follow up US 1 year later, a few small bilateral cysts measuring < 1cm and persistent renal enlargement was noted. Due to concerning findings of progressive renal cysts with further growth of the kidneys potentially secondary to GH treatment, her GH treatments was stopped.
After 6 months off GH therapy, renal enlargement was unchanged with more enlargment of her cysts. Patient got genetic studies for PKD and was found to be heterozygous for pathogenic variant in the PKD1 gene consistent with the diagnosis of ADPKD. Parents both tested negative for PKD1 mutation suggestive of de novo mutation.
Discussion
Patients with TS often have short stature requiring GH treatment in order to achieve improved adult height. TS has multi-organ system manifestations including an increased risk for renal anomalies like simple renal cyst, horseshoe, duplicated, or absent kidney. This case highlights the potential increased risk for patients with TS who are on GH treatment to develop kidney disease. To the best of our knowledge, the association of TS and ADPKD has not been described yet. The current clinical practice guidelines state that patients with known TS should receive a renal US at time of diagnosis with no further follow up renal imaging has been recommended at this time.
Given the potential role of GH in cyst proliferation and frequency of GH therapy in this patient population, we recommend reevaluation of current renal screening guidelines for patient with TS. Early diagnosis and treatment could potentially reduce morbidity associated with renal disease and growth hormone.