• Clinical and Experimental Pediatrics
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• v.57 no.5
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• pp.240-244
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• 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 ($p.Gln213^*$). To our knowledge, this is a novel mutation in GNAS.

• Archives of Plastic Surgery
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• v.37 no.3
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• pp.281-284
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• 2010

Purpose: Pseudohypoparathyroidism is a hereditary disorder characterized by symptoms and signs of hypoparathyroidism, typically in association with distinctive skeletal and developmental defects. Hypoparathyroidism is caused by a insufficient end-organ response to PTH (parathyroid hormone). Hypoparathyroidism consists of four types in which the most common form, pseudohypoparathyroidism-Ia, accompany with Albright's hereditary osteodystrophy. We experienced a case of a woman who had been suffering from calcified mass on left foot, diagnosed Albright's hereditary osteodystrophy. Methods: We present a case of a 24-year-old Korean female who visited plastic surgery department with a painful mass on dorsum of the left foot. On the physical exam, bony hard and painful mass, fixed to dermis, was noted. Plain X-ray films demonstrate suspicious calcification on subcutaneous tissue of dorsum of the left foot. The patient was diagnosed pseudohypoparathyroidism 2 years ago at the plastic surgery department. At the visiting time, the laboratory results were within normal range even though the patient actually had a disease. The reason is because the patient has been treated with Vit.D, calcium replacement therapy and thyroid hormone therapy. Moreover, the patient has been treated with anticonvulsant agents due to epilepsy. On the brain computer tomography (CT), calcification was noted on the basal ganglia and dentate nucleus. So we decided the total excision of entire mass from the left foot. Results: We excised main mass with numerous pinhead sized masses which were scattered around the main mass. The $6.0{\times}4.0{\times}0.5\;cm$ sized main mass was bony hard, and its surface was flat and margin was irregular. The permanent biopsy was confirmed that the main mass and all the scattered tiny masses were heterotopic calcification. The patient did not suffer from the pain after the mass excision. The wound has been healed without any problem. Conclusions: Heterotrophic calcification is often accompanied with pseudohypoparathyroidism, but such a huge one is uncommon. We report a case of pseudohypoparathyroidism with heterotrophic calcification developed in dorsum of left foot who was diagnosed by excisional biopsy.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.18-22
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• 2017

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

• Proceedings of the Korean Society of Applied Pharmacology
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• 1996.11a
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• pp.85-89
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• 1996

성장저해는 만성신부전 (chronic renal failure, CRF) 소아환자나 실험동물에게서 나타나는 합병증의 하나로, 그 발생기전이 잘 알려져 있지 않다. 성장저해를 일으키는 원인으로 비내분비적 요인 (metabolic acidosis, renal osteodystrophy, anemia)과 내분비적 요인의 복합적 결과로 생각하나, 비내분비적 요인들은 약물투여로 그 증세를 완화시켜도 성장저해에 대한 궁극적 치료효과는 나타나지 않는다. 따라서 성장 호르몬 (Growth Hormone, GH)이 관여하는 내분비적 요인의 변화에 그 병리기전이 있을 것으로 연구되어 왔다. GH는 직접적 성장 효과와 Insulin-like growth factor-1(IGF-I)을 간으로부터 유리시켜 나타나는 간접적 성장효과를 가지고 있다. 그런데 CRF환자의 GH 및 IGF-I 의 혈중 농도는 정상이거나, 흑은 오히려 증가상태에 있음에도 볼구하고 성장저해가 일어나는 것으로 보아, 환자의 말단기관 (end-organ)에 원인을 알 수 없는 저항성 (resistance)이 있다고 규정되어진다.

• Journal of Veterinary Clinics
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• v.17 no.2
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• pp.490-494
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• 2000

2달령의 수컷 로트와 일러가 4일간 설사와 통증.보행 실조 등의 증상을 보여 (주)해 마루 소동물 임상 의자 연구소에 의뢰되었다 흉부 방사선 검사에서 폐야 전반에 걸친 페포성 침윤과 흉벽의 심란 비후가 관찰되어 흉막폐렴으로 진단하였으며 복강 초음파 검사에서 상 복부에서 소량의 복수가 관찰되었고 전반적인 간 echogenicity가 증가되어 있었다. 치료 후 설사 증상은 사라지고 전신 상태가 다소 호전되어 내원 후 7일째에 흉부 방사선 검사를 재 실시하였다. 흉막과 폐의 병변은 변화가 없었으나 상완골과 요골의 골간단 부분에 이상 소견 이 발견되어 골격계 방사선 검사를 실시한 결과 상완골, 요골, 대퇴골 그리고 경골의 골간단에 경화성 변화와 무정형의 골막 반응이 관찰되었고 요골, 척골과 경골의 골간단 부분에 성 장판 외의 방사선 투과성 선이 관찰되었다. 이상의 특이적인 방사선 소견을 바탕으로 비록 본 질환의 정확한 원인은 밝힐 수 없었으나, 감염성 원인에 의한 비대성 골이형성증으로 진단하였다.

• Korean Journal of Head & Neck Oncology
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• v.11 no.2
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• pp.185-190
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• 1995

Transient and permanent hypocalcemia after various types of thyroidectomy are well-known complications, and are more common after bilateral subtotal thyroidectomy for Graves' disease. However, their causative mechanisms are not well explained. Four hundred thirty patients with Graves' disease who underwent bilateral subtotal thyroidectomy from January 1983 through December 1992 were analyzed to determine the incidence and risk factors for the development of postthyroidectomy hypocalcemia. Of the 430 patients underwent bilateral subtotal thyroidectomy, symptomatic transient and permanent hypocalcemia developed in 24.2 % (104/430) and 0.5 % (2/430), respectively. With analysis of potential risk factors, the increase in incidence of the postthyroidectomy hypocalcemia was found to be statistically related to the larger thyroid gland, the larger amount of blood loss during thyroidectomy, the smaller remnant thyroid tissue, the higher levels of serum alkaline phosphatase and TBII titers. Our data suggest that impairment of parathyroid gland blood supply, degree of thyrotoxic osteodystrophy and autoimmune process of each patient are regarded as main mechanisms of postthyroidectomy hypocalcemia in patients with Graves' disease.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.13 no.1
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• pp.97-105
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• 1983

For the assessment of changes in the bone architecture of the maxilla and mandible in renal osteodystrophy, 31 chronic renal failure patients who were undergoing hemodialysis therapy were selected. They were evaluated through clinical oral examination, radiographic and biochemical examination. The results were as follows: 1. In 17 cases (54.8%), there were evidences of bony change in jawbone. 2. The most common dental radiographic finding was decreased bone density (14 cases, 45.2%). 3. The second most common dental radiographic finding was total or partial loss of lamina alveolar dura (11 cases, 35.5%). 4. The third most common dental radiographic finding was total or partial loss of inferior canal wall (8 cases, 25.8%). 5 cases showed evidences of bony change only in jawbone, and 5 cases only in hand, and 12 cases in both. 6. Serum creatinine, urea nitrogen and alkaline phosphatase values in hemodialysis group were much higher than in control group. 7. There were statistically significant correlation between bone density and lamina dura, and inferior alveolar canal wall.

• Journal of Haehwa Medicine
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• v.16 no.2
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• pp.229-234
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• 2007

Objectives : Chronic renal failure(CRF) is a pathophysiologic process with multiple etiologies, resulting in the inexorable attrition of nephron number and function and frequently leading to end-stage renal disease. It causes various symptoms(edema, general body weakness, nausea, anorexia, uremia, osteodystrophy and so on) which impair quality of life and long term complications. The purpose of this case is to report the improvement of a patient with chronic renal failure. Methods : We treated the patient with herbal medication(Gyulpyjeonwon) and measured the creatinine, BUN, albumin, hemoglobin in the serum. Results : Gyulpyjeonwon decreased serum creatinine and BUN level and increased serum albumin and hemoglobin level. And the symptoms of CRF(edema, general body weakness, anorexia) was improved significantly. Conclusions : This case suggests the efficacy of herbal medication(Gyulpyjeonwon) to patient who was involved CRF.

• Childhood Kidney Diseases
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• v.1 no.2
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• pp.189-194
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• 1997

Oligomeganephronia is a rare congenital form of bilateral renal hypoplasia histologically characterized by reduction in number and hypertrophy of nephrons. Clinically, this condition is presented in early infancy with vomiting, polyuria, polydipsia and dehydration. The problems are readily corrected, but slowly progressive renal failure follows accompanied by failure to thrive, short stature, and renal osteodystrophy. We experienced three cases of oligomeganephronia. Case 1. : A 3 2/12 years old female child was incidentally diagnosed as renal failure at age of 2 months when she was hospitalized due to pneumonia. She had open renal biopsy and was diagnosed as bilateral dysplastic kidney. On OPD follow-up, she progressed to end-stage renal failure (BUN/Cr 114/4.6 mg/dl) and had renal transplantation. The specimen was shrunk remarkably and light microscopy showed oligomeganephronia. Case 2. : A 14 8/12 years old female child with proteinuria was detected in an annual urine screening program for school children, she was diagnosed as renal failure (BUN/Cr 33.9/4.1 mg/dl), and had $5{\times}4{\times}3\;cm$ sized mass on abdominal CT scan. She had renal biopsy, and the specimen showed oligomeganephronia. She had hemodialysis for six months, and renal transplantation along with bilateral nephrectomy was performed. Case 3. : A 14 8/12 years old male child was diagnosed having chronic nephritis and chronic renal failure at 3 years old, progressed to end-stage renal failure (BUN/Cr 87/9.6 mg/dl) on OPD follow-up, and had a rephrectomy and renal transplantation. The biopsy specimen showed oligomeganephronic hypoplasia, secondary focal segmental glomerolosclerosis, and chronic interstitial nephritis. We report 3 cases of oligomeganephronia that progressed to end-stage renal failure and had successful renal transplantation with a brief review of related literatures.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.3
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• pp.158-167
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• 2024

Purpose: To evaluate the prevalence of vertebral fracture (VF) in children with chronic liver disease (CLD) with and without liver transplantation (LT) and to determine the associated factors. Methods: A cross-sectional study was conducted. Patients aged 3-21 years with CLD both before and after LT were enrolled in the study. Lateral thoracolumbar spine radiographs were obtained and assessed for VF using Mäkitie's method. Clinical and biochemical data were collected. Results: We enrolled 147 patients (80 females; median age 8.8 years [interquartile range 6.0-11.8]; 110 [74.8%] in the LT group and 37 [25.2%] in the non-LT group). VF was identified in 21 patients (14.3%): 17/110 (15.5%) in the LT group and 4/37 (10.8%) in the non-LT group (p=0.54). Back pain was noted in only three patients with VF. In the univariate analysis, a height z-score below -2.0 (p=0.010), pre-LT hepatopulmonary syndrome (p=0.014), elevated serum direct and total bilirubin levels (p=0.037 and p=0.049, respectively), and vitamin D deficiency at 1-year post-LT (p=0.048) were associated with VF in the LT group. In multivariate analysis, height z-score below -2.0 was the only significant associated factor (odds ratio, 5.94; 95% confidence interval, 1.49-23.76; p=0.012) for VF. All VFs in the non-LT group were reported in males. Conclusion: In children with CLD, VF is common before and after LT. Most patients with VF are asymptomatic. Screening for VF should be considered in patients with a height z-score below -2.0 after LT.