Preliminary analysis of clinically relevant indicators in two patients with mucolipidosis type Ⅲ and their family members
10.3969/j.issn.1008-9691.2018.06.025
- VernacularTitle:2例黏多糖贮积症Ⅲ型患者及家人临床相关指标的初步分析
- Author:
Yaoping HUANG
1
;
Xichao XIA
;
Jianyong WU
;
Juan CUI
;
Junfeng ZHANG
;
Yang LIU
;
Guochang XU
;
Qingfu HU
;
Qing WANG
;
Rongzhi LIU
Author Information
1. 平顶山学院医学院
- Keywords:
Mucolipidosis type Ⅲ;
Hand bone;
Blood indexes;
Body composition
- From:
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care
2018;25(6):662-664
- CountryChina
- Language:Chinese
-
Abstract:
Objective To observe the clinical characteristics of 2 patients with mucolipidosis type Ⅲ. Methods Two sibling patients (a sister and a brother) with mucolipidosis type Ⅲ symptoms and other family members were the research objects, and the changes of their features of hand bone imaging, blood indexes [blood glucose, cholesterol, triacylglycerol (TG), total protein (TP), albumin (Alb)] and body composition were analyzed. Results Except the 2 patients, the bone morphology, blood indexes and body compositions in other 7 family members were under normal conditions. The phalanx intervals of both hands in 2 patients with mucolipidosis type Ⅲwere widened significantly, among them the thumb manifestation was more obvious; the distal segments of phalanxes in both hands became pointed and curved presenting a "claw-like hand" deformity; the metacarpal and distal carpal metaphysis were obviously enlarged, and scaphoid, lunate, trianglar, orbicular, and trapezium and trapezoid bones were loosely arranged at the wrist; the distal ends of ulna and radius were markedly enlarged. Compared to healthy people, the triglyceride levels of serum in the 2 patients were obviously reduced (the percentage of reduction: 57.14% and 41.07% respectively); body mass indexes (BMI), total fat and visceral fat were significantly lowered (BMI reduction percentage:26.81% and 14.55%, total fat reduction percentage: 38.12% and 44.95%, visceral fat reduction percentage: 62.25% and 67.74%, respectively) in the two patients. Conclusion The purpose of studying the biochemistry indexes, imaging characteristics and body compositions is to more deeply understand the clinical symptoms and signs of the 2 sibling patients with mucolipidosis type Ⅲ in a family to provide a theoretical reference.
