• Childhood Kidney Diseases
• /
• 제1권2호
• /
• pp.183-188
• /
• 1997

Familial juvenile hyperuricemic nephropathy is an autosomal dominant disease characterized by progressive renal disease and hyperuricemia or gout, affecting young people of either sex equally. There are two biochemical markers of this disorder. The first is hyperuricemia disproportionate to the degree of renal dysfunction; the second is a grossly reduced clearance of uric acid relative to creatinine, dispropotionate to age, sex and degree of renal failure. We experienced 2 family members with hyperuricemia. One family member, a 13-year-old girl who had suffered from tophaceous gout and chronic renal failure. Her younger brother also had hyperuricemia and moderately reduced renal function. Their urinary excretion fractions of uric acid($FE_{uric\;acid}$) were reduced and renal biopsy specimens showed interstitial fibrosis with tubular atrophy and interstitial urate crystal deposition. We have treated these two patients with allopurinol but we have done renal transplantation because she progressed to end stage renal disease at 16 year old age.

• Journal of Genetic Medicine
• /
• 제10권1호
• /
• pp.7-12
• /
• 2013

Familial Juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disorder, characterized by early onset of hyperuricemia, gout and progressive kidney disease. Hyperuricemia prior to renal impairment and decreased fractional excretion of uric acid are hallmarks of FJHN. Renal dysfunction gradually appears early in life and results in end-stage renal disease usually between the ages of 20 and 70 years. FJHN is mostly caused by mutations in the uromodulin gene located at 16p12. The course of FJHN is highly variable. Treatment includes management for hyperuricemia, gout and progressive kidney disease. Individuals with gout have been usually treated with allopurinol. But controversy exists as to whether uric acid lowering therapy prevents the progression of chronic kidney disease.

• Journal of Genetic Medicine
• /
• 제17권1호
• /
• pp.39-42
• /
• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• 한국임상수의학회지
• /
• 제24권4호
• /
• pp.647-652
• /
• 2007

In the present study, we address systemically a case of renal disease developed in a 1 year-old male cocker spaniel dog in terms of clinical signs, clinical pathology and pathological examinations. The animal has been suffered from renal dysfunction signs such as polyuria, anorexia, vomiting, diarrhea and weight loss. The dog was very weak and emaciated and had foamy contents with foul-smell in oral cavity. The animals showed notable decrease in the number of red blood cells and severe decreases of hemoglobin and hematocrit with or without changes of mean corpuscular volume and mean corpuscular hemoglobin concentration values, indicating microcytic or normocytic hypochromatic anemia. In serum chemistry, blood urea nitrogen, creatinine, phosphorous, Na and Cl, which are associated with renal function, were dramatically increased. In addition, alanine aminotransferase, aspartate transferase, alkaline phosphatase, cholesterol, lipase and amylase were also significantly elevated, while K concentration was notably decreased. Urinalysis indicated prominent proteinuria with increase of bilirubin. Despite of symptomatic treatments, the dog was getting worse in healthy condition and dead in the end. At necropsy, both kidneys were brownish, pale, slightly small, and have diffuse, firm and subcapsular pits. Histologically, the kidneys indicated prominent segmental or diffuse interstitial fibrosis in cortex and medulla as well as glomerulonephritis. The clinical signs, clinical pathology and histopathological abnormalities of the young dog presented were consistent with chronic glomerulonephropathy, which was suspected to be a case of familial renal disease in the juvenile cocker spaniel dog.

• Childhood Kidney Diseases
• /
• 제3권2호
• /
• pp.221-226
• /
• 1999

Glomerulocystic kidney disease(GCKD) is a rare form of renal cystic disease defined histopathologically by containing dilated Bowman's space with variable atrophy of glomerular tufts, which may occur as sporadically or as familial cases and can be presented as a major component of heritable syndromes. It has not been recognized in Korean children but only one report of adult case has been reported having GCKD. We experienced a case of GCKD in a 10-year-10-month-old boy, who was admitted for hypertension. Abdominal ultrasonography and computed tomography revealed clustered numerous small cysts in left kidney and renal biopsy findings was consistent with the GCKD showing cystic dilatation of Bowman's space with intact glomerular structure.

• Childhood Kidney Diseases
• /
• 제15권2호
• /
• pp.172-178
• /
• 2011

신성 요붕증은 항이뇨 호르몬의 혈중 농도가 높음에도 불구하고, 신장이 항이뇨 호르몬에 반응하지 못하여 생기는 유전질환이다. 신장이 항이뇨 호르몬에 반응하지 못하면 신장의 농도 조절 작용과 수분재흡수의 기능이 상실되어 많은 양의 저장(hypoto-nic) 상태의 뇨를 체외로 배출함으로써 탈수증에 이르게 된다. 저자들은 가족성 신성 요붕증으로 진단받은 형제에서 AVPR2 유전자의 hemizygous c.910 delG mutation를 발견하여 문헌 고찰과 함께 보고하는 바이다.

• 고신대학교 의과대학 학술지
• /
• 제33권3호
• /
• pp.446-453
• /
• 2018

Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4-12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.

• Childhood Kidney Diseases
• /
• 제16권1호
• /
• pp.46-50
• /
• 2012

C1q 신병증은 1985년 Jennett와 Hipp에 의해 발표된 이래 어린 영아에서부터 청 장년층에 까지 발표되어 왔으나 아직 임상병리학적으로 논란이 많은 질환이다. 저자들은 어린 남매에서 스테로이드 저항성의 콩팥증후군의 임상 양상을 보이며 병리 조직학적으로 국소분절사구체경화증과 메산지움에 C1q의 현저한 침착을 보인, C1q 신증을 발표하는 바이다.

• 보험의학회지
• /
• 제2권1호
• /
• pp.218-232
• /
• 1985

Congenital hereditary disease is in devided into Infantile type and Adult type, Adult type is hidden for many years and keeps normal renal function till middle age. Cyst is stimultaneously made in both sides and becomes lowered in renal function in 30's to 40's. Infantile type is generally born with the big kidneys, renal failure, undergrowth of intrahepatic bile duct. Both infantile and childhood type have ureteral dilatation and portal hypertension In infantile type, it is mostly developed into renal failure, but generally faces death as a result of hepatic disease. The reason of death is that an abnormal condition of recessive autosome affects the liver and kidneys. While the incidence of infantile type is rare as $0.017{\sim}0.07%$ and it is autosomal recessive heredity, Adult type can rarely exist in infantile period. Though it exists in middle period, 50% of patients can live for 2-4 years after the first symptom incidence and 25% can less than 2 years. It is hard to cure completely in medicine and surgery. Three difficulties in familial incidence are comparative decrease of the donor who have no affection on renal transplantation. For another consideration it is to show the family history for several generations. We, the Med. Dept. of Dae Han Kyouk Life Insurance Co. Ltd., used the ultrasonic apparatus in diagnosing the one case of adult type bilateral polycystic kidney and then doubted the family history. As a result of inspecting the family we experienced bilateral polycystic kidney from 3 persons out of 4 who can be inspected. The results are as follows: 1) We could confirm the polycystic kidney from 3 persons out of 4(75%). 2) Then when they came for check up, chief complaint was the pain in all 3 cases(100%). 3) Accompanying disease was hypertension in 2 cases(67%). 4) In early disease incidence, we couldn't observe the specific change in pathological opinion. 5) All 3 cases are not accompanied with cystic lesion in liver, spleen, pancreas.

• Childhood Kidney Diseases
• /
• 제5권2호
• /
• pp.164-175
• /
• 2001

목 적 ; Alport 증후군은 1927년 Alport에 의해 처음 보고된 유전성 신질환으로 전신적으로 기저막에 영향을 미쳐 계속적으로 진행하는 신질환과 감각신경성 난청, 눈의 이상, 전자현미경상 특징적 소견, 그리고 대부분의 경우 가족력 동반을 특징으로 한다. 저자들은 Alport 증후군 환아의 임상적 특징을 중심으로 관찰하여 이 질환의 예후에 관련된 위험요인을 알아보고자 후향적 조사를 시행하였다. 대상 및 방법 : 1980년 1월부터 1999년 12월까지 20년동안 소아과에서 시행한 신장조직검사에서 Alport 증후군으로 진단 후 추적관찰이 가능하였던 환아 24명을 대상으로 하였다. 처음 내원 당시와 현재의 신장기능을 비교하여 현재까지 정상의 신장기능을 유지하고 있는 군(Group I)과 만성신부전으로 진행한 군(Group II)으로 나누어 Group I과 Group II간의 여러 가지 임상양상을 비교하였으며 통계학적 방법으로는 비모수검정법을 이용하였다. 결 과 : 24명의 환아 중 남녀의 비는 3:1이였고 신증상 발현시의 연령은 평균 $5.2{\pm}3.6세$였으며 내원 당시 나이는 평균 $7.8{\pm}4.4세$였다. 처음 내원 당시의 주증상은 육안적 혈뇨가 15예($62\%$)로 가장 많았고, 진단 당시의 환아들의 임상양상으로는 가족력이 있는 경우가 17예($70\%$), 육안적 혈뇨는 18예($75\%$), 단백뇨가 있었던 경우가 14예($58\%$), 부종은 14예($58\%$), 고혈압은 6예($25\%$)에서 관찰되었다. 전체 24명의 환아 중 만성신부전으로 진행된 경우는 11예($46\%$)였고, 이 중 말기신부전으로 진행되어 신장이식 후 관찰 중인 경우가 7예($29\%$) 있었다. 청각이상소견을 보인 경우는 12예($50\%$)였으며, 안과적 정밀검사상 이상소견을 보인 경우는 5예($21\%$)였다. 신증상 발현이후 계속해서 신장기능이 유지되고 있는 집단을 Group I(n=13), 만성신부전으로 진행한 집단을 Group II(n=11)라고 할 때, 이 두 집단 사이의 진단당시의 임상양상의 차이를 보면 고혈압, 단백뇨 및 부종의 빈도가 Group I에서 통계적으로 유의하게 증가되어 있으며, 임상병리검사 소견에서는 혈중 총단백량, 알부민, creatinine 청소율이 Group I에서 통계적으로 유의하게 감소되어 있고, BUN, creatinine은 통계적으로 유의하게 증가되었다. 결 론 : Alport 증후군 환아에서 임상적으로 유의미한 예후와 관련된 위험요인으로는 진단시의 고혈압, 부종, 단백뇨 유무 여부와 혈중 총단백량, 알부민, BUN, creatinine, 사구체 여과율이 중요하며, 이런 가능한 위험요인의 분석과 관찰이 Alport 증후군 환아의 치료와 예후 인지에 많은 도움이 되리라 사료된다.