• Childhood Kidney Diseases
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• 제20권2호
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• pp.83-87
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• 2016

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease that is difficult to diagnose. CLD requires early treatment to correct electrolyte imbalance and alkalosis and to prevent severe dehydration. Renal injury is clearly associated with defective electrolyte balance induced by CLD, particularly during the first months or years of life. A 7-year-old boy was diagnosed with CLD following detection of a homozygous mutation (c.2063-1G>T) in SLC26A3 at 6 months of age. During treatment with electrolyte supplements, mild proteinuria was detected at 8 months of age, and is still present. Renal biopsy showed the presence of focal renal dysplasia, with metaplastic cartilage and mononuclear cell infiltration, calcification, and fibrosis in the interstitium. Up to two-thirds of the glomeruli exhibited global obsolescence, mostly aggregated in the dysplastic area. In nondysplastic areas, the glomeruli were markedly increased in size and severely hypercellular, with increased mesangial matrix, and displayed segmental sclerosis. The marked glomerular hypertrophy with focal segmental glomerulosclerosis suggested a compensatory reaction to the severe nephron loss or glomerular obsolescence associated with renal dysplasia, with superimposed by CLD aggravating the tubulointerstitial damage.

• Journal of Chest Surgery
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• 제25권12호
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• pp.1487-1491
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• 1992

The renovascular hypertension is a rare disease in which obstructive lesion of renal artery results in hypertension and it is the most common surgically curable form of hypertension. Recently, we experienced two cases of renovascular hypertension treated successfully with resection of the stenotic segment and end-to-side reanastomosis of the renal artery to the aorta in one case, and with resection of the stenotic segment and saphenous vein bypass graft in the other case at the Thoracic & Cardiovascular Surgery, Chungnam National University Hospital. Pathologic examinations revealed fibromuscular dysplasia of the medial layer of the renal artery in both cases

• Childhood Kidney Diseases
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• 제26권2호
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

• Childhood Kidney Diseases
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• 제22권2호
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• pp.64-66
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• 2018

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.

• 한국임상수의학회지
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• 제32권1호
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• pp.91-93
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• 2015

6개월령의 중성화 수컷 고양이가 3일전 관찰된 간헐적인 혈뇨로 내원하였다. 신체검사 및 실험실 검사 결과 특이소견이 관찰되지 않았다. 초음파 검사 결과 복부 중간부분에서 $2{\times}2cm$ 크기의 분리된 낭성 병변이 확인되었다. 병변 내부 물질의 세포학적 검사 결과 다량의 콜레스테롤 결정과 대식구 주종의 육아종성 염증반응이 확인되었다. CT검사에서 낭성 병변은 복부 좌측에 위치하였다. 이상의 결과를 종합하여 환자는 편측성(좌측) 신장 이형성 및 콜레스테롤 결정에 의한 낭 내 염증으로 진단하였다.

• Childhood Kidney Diseases
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• 제12권2호
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• pp.262-266
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• 2008

교차성 신전위는 두 개의 신장이 정중선의 같은 편에 나란히 위치하는 선천성 신장병이다. 대개 기형은 오른쪽에 있고 융합되어 있는 경우가 융합되지 않는 경우의 8배에 달한다. 교차성 신전위는 흔한 질환은 아니지만, 영아에서 복부에 낭성 종물이 만져지고 반대편에 신장이 없는 경우에는 고려해 보아야 한다. 다낭 형성 이상을 동반한 융합된 교차성 신전위는 대부분 초음파로 진단되므로 진단을 위해 더 이상의 검사가 필요하지 않은 경우가 많다. 그러나 방사선 동위원소를 이용한 신주사로 교차성 신전위의 기능여부를 파악해야 하고, 배설성 방광요로조영술로 방광요관 역류나 신우요관이행부의 협착이 있는지 확인해야 한다. 다낭 형성 이상을 동반한 융합된 교차성 신전위에 대한 연구는 거의 없는 실정으로 저자들은 발열, 복통을 주소로 내원한 3세 남아에서 초음파를 시행하여 다낭 형성 이상을 동반한 융합된 교차성 신전위 1례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.

• Journal of Yeungnam Medical Science
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• 제33권1호
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• pp.44-47
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• 2016

Primary dissection of the renal artery is rare. Spontaneous renal artery dissection can be associated with diseases such as medial degeneration, neurofibromatosis, syphilitic arteritis, tuberculosis, polyarteritis nodosa, Marfan syndrome, fibromuscular dysplasia, or Ehlers-Danlos syndrome (EDS). Among these causes, EDS related renal artery dissection is very rare worldwide and has not been previously reported in Korea. EDS are a group of heritable connective tissue disorders characterized by fragility of the skin and hypermobility of the joints. We describe the case history of a young man who presented with left side flank pain, hypermobility of the hand joints and showed left renal artery dissection on computed tomography and angiography that turned out to be the first complication of vascular type EDS.

• 한국임상수의학회지
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• 제26권1호
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• pp.54-57
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• 2009

5개월령의 거세하지 않은 암컷 시베리안 허스키가 상악 병변의 평가를 위해 내원하였다. CBC, 혈청 화학, 요검사 소견에서 염증과 신부전이 지시되었다. 병변의 세포학 검사에서는 거대 다핵 세포들과 원형$\sim$방추형의 다향한 모양의 세포들이 개별적으로 탈락되거나 군집을 형성하였다. 두 종류의 세포들 모두 중등도의 핵 대소부동증과 세포부동증을 보였고, 뚜렷한 한 개의 핵소체 또는 여러 개의 작은 핵소체를 갖고 있었으며 성긴 염색질이었다. 조직병리학적 검사 결과, 상악과 비갑개는 전반적으로 확장되어 있었으며 결합조직에 의해 대체되어 있었으며 신장에서는 형성 이상이 관찰되었다. 이러한 결과를 바탕으로, 신장형성이상과 섬유화로 인한 섬유성 골형성장애로 진단되었다. 대증적인 처치에도 불구하고 환자의 상태는 악화되어 안락사 되었다.

• Childhood Kidney Diseases
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• 제13권2호
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• pp.252-255
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• 2009

동측의 신무형성증과 동반된 정낭낭종은 드문 질환이며, 대부분 선천성이지만 2/3에서 신형성부전이나 신무형성증과 연관이 있다. 대부분 10대에서 30대에 걸쳐 증상이 발현되며 배뇨시 통증이나 빈뇨, 회음부 통증, 고환이나 부고환염, 사정 후 동통이나 고환 통증이 주된 증상으로 불임이 동반되기도 한다. 무증상의 환자에서 우연히 직장 수지 검사를 통해 발견되기도 한다. 저자들은 산전 초음파상 다낭성 신이형성증 소견을 보여 초음파를 시행하였던 우측 신무형성증 및 좌측에 경미한 수신증 소견을 보였던 영아에서 추적 관찰 중 동측에 정낭낭종 소견을 관찰하였기에 보고하는 바이다.