Novel SLCO2A1compound Heterozygous Mutation Causing Primary Hypertrophic Osteoarthropathy with Bartter-like Hypokalemia in a Chinese Family

Overview

Journal J Endocrinol Invest

Publisher Springer

Specialty Endocrinology

Date 2019 Apr 21

PMID 31004291

Citations 2

Authors

Y Jiang

J Du

Y-W Song

W-B Wang

Q-Q Pang

M Li

O Wang

X-L Lian

X-P Xing

W-B Xia

Affiliations

Soon will be listed here.

Abstract

Purpose: Primary hypertrophic osteoarthropathy (PHO) is an inherited disease characterized by digital clubbing, periostosis and pachydermia with defects in the degradation of prostaglandin E2 (PGE2). Mutations in SLCO2A1 gene-encoding prostaglandin transporter (PGT) resulted in PHO, autosomal recessive 2 (PHOAR2). The spectrum of mutations and variable clinical complications of PHOAR2 has been delineated. In this study, we investigated a Chinese PHO family with a manifestation of Bartter-like hypokalemia.

Methods: Clinical manifestations were collected and genetic analyses were performed in the PHO family.

Results: The 33-year-old male proband had severe hypokalemia due to potassium loss from the kidney, while his brother had mild hypokalemia. After being treated with etoricoxib, the serum potassium level of the patient increased rapidly to the normal range which corresponded with the reduction in his serum PGE2 and PE2 metabolite (PGEM) levels. A novel SLCO2A1 compound heterozygous mutation of p.I284V and p.C459R was identified in two PHO patients in this family.

Conclusions: The present findings supported that the Bartter-like hypokalemia is a new complication of PHOAR2 caused by the high level of PGE2. Etoricoxib was demonstrated to be effective for the renal hypokalemia in PHO patients.

Citing Articles

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy.

Li N, Ma Y, Jiang Y, You L, Huang Y, Peng Y Int J Endocrinol. 2020; 2020:6698878.

PMID: 33343660 PMC: 7732396. DOI: 10.1155/2020/6698878.

Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with -associated Primary Hypertrophic Osteoarthropathy.

Sonoda A, Wada Y, Togo K, Mizukami K, Fuyuno Y, Umeno J Intern Med. 2019; 59(4):491-494.

PMID: 31611528 PMC: 7056367. DOI: 10.2169/internalmedicine.3369-19.

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