• Childhood Kidney Diseases
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• v.20 no.2
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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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• v.25 no.12
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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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• v.26 no.2
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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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• v.22 no.2
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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.

• Journal of Veterinary Clinics
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• v.32 no.1
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• pp.91-93
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• 2015

A 6-month-old, castrated male, Korean short-haired cat was referred with intermittent hematuria. Physical and laboratory examination including complete blood count and serum biochemistry profiles showed no specific findings. Ultrasonography revealed a cystic lesion of the mid-abdomen, which was approximately $2{\times}2cm$ in size. FNA cytology of cystic fluid showed numerous cholesterol crystals of varying size and shape and granulomatous inflammation. CT examination showed fluid-filled large cystic lesion in the left side of the abdomen. Taken together, this case was diagnosed as unilateral (left) renal dysplasia and cystic inflammation led by cholesterol crystallization in the left kidney.

• Childhood Kidney Diseases
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• v.12 no.2
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• pp.262-266
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• 2008

Crossed renal ectopia is a congenital malformation in which both kidneys lie on the same side of the spine, usually side by side longitudinally. More often on the right side. Fusion of the two renal units is eight times more common than nonfusion. Although crossed renal ectopia is uncommon, this unusual entity must be considered in an infant when cystic mass in the abdomen or pelvis paticularly if no kidney can be found on the opposite side. In many cases of crossed fused ectopia with multicystic dysplastic kidney(MCDK), the diagnosis can be strongly suspected from the sonogram, and no other studies may be necessary. However, both intravenous urography and isotope renography is useful to assess the function of the crossed kidney. Crossed renal ectopia and MCDKs are associated with a greater incidence of ureteropelvic junction obstruction and reflux. So, screening voiding cystourethrography should be performed. Very few studies of MCDK in the setting of crossed fused ectopia have been reported. We have experienced a 3-year-old boy with crossed fused renal ectopia with multicystic dysplasia.

• Journal of Genetic Medicine
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• v.11 no.2
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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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• v.33 no.1
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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.

• Journal of Veterinary Clinics
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• v.26 no.1
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• pp.54-57
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• 2009

A 5-month-old intact female Siberian Husky dog was presented for evaluation of severely enlarged maxilla. Abnormalities in CBC, serum chemistry and urinalysis indicated purulent inflammation and renal failure. Cytologic examination of the swollen maxilla showed a mixed population of multinucleated giant cells and round to polygonal to spindle shaped cells either individualized or aggregated. Both type of cells showed moderate anisokaryosis, and anisocytosis, prominent nucleolus or multiple nucleoli, and coarse chromatin. On histopathology maxilla and turbinate were diffusely expanded and replaced by variably dense fibrous connective tissue, and the kidneys showed changes consistent with renal dysplasia. Based on these findings, the diagnosis of fibrous osteodystrophy due to renal dysplasia and fibrosis was made. Despite the supportive care, the dog continued to decline and was euthanized.

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.252-255
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• 2009

Seminal vesicle cysts have been rarely detected. Most of them are caused congenitally, and two-thirds of them are accompanied with ipsilateral renal agenesis or dysplasia. They are usually present with dysuria, urinary frequency, perineal pain, epididymitis, pain after ejaculation, scrotal pain or infertility in the second to fourth decade of patient's life. Occasionally cysts are palpable by digital rectal examination, but radiologic imaging study is necessary to diagnose. We report a case of an infant with seminal vesicle cyst accompanied with ipsilateral renal agenesis detected incidentally in postnatal sonogram. The infant's right side of kidney was diagnosed as antenatally multicystic dysplastic kidney.