• Childhood Kidney Diseases
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• v.1 no.2
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• pp.183-188
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• 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
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• v.10 no.1
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• pp.7-12
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• 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
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• v.17 no.1
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• pp.39-42
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• 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.

• Journal of Veterinary Clinics
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• v.24 no.4
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• pp.647-652
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• 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
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• v.3 no.2
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• pp.221-226
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• 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
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• v.15 no.2
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• pp.172-178
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• 2011

Nephrogenic diabetes insipidus is a rare genetic renal disease characterized by insensitivity of the kidney to the anti-diuretic effect of vasopressin in spite of elevated serum antidiuretic hormone (ADH). Failure of the kidney to respond to ADH results in impaired osmoregulation and water reabsorption of the kidney, therefore, nephrogenic diabetes insipidus presents with a large amount of hypotonic polyuria, polydipsia, and dehydration. We report our experience of two familial cases of nephrogenic diabetes insipidus in brothers both having c.910+1delG in intron 2 of the AVPR2 gene with the brief review of related literatures.

• Kosin Medical Journal
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• v.33 no.3
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• pp.446-453
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• 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
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• v.16 no.1
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• pp.46-50
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• 2012

C1q nephropathy is a distinct clinicopathologic entity, characterized by mesangial immunoglobulin and complement deposits, predominantly C1q, with no evidence for systemic lupus erythematosus. Clinically it may present as nephrotic syndrome and non-nephrotic proteinuria per se or associated with microscopic hematuria, gross hematuria, hypertension, or renal insufficiency. So far there is only one report about a familial case of C1q nephropathy (in two sisters). We present two cases of familial C1q nephropathy with nephrotic syndrome which was steroid resistant, but partially remitted with cyclosporine.

• The Journal of the Korean life insurance medical association
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• v.2 no.1
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• pp.218-232
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• 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
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• v.5 no.2
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• pp.164-175
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• 2001

Purpose : Alport syndrome is a hereditary nephrotic disease characterized by progressive nephrotic symptom, sensorineural hearing loss, ophthalmic abnormality, typical microscopic findings, and familial occurrence. In this study, we tried to find the risk factors related with its prognosis by taking a close observation on clinical symptoms of children with Alport syndrome reviewing retrospectively. Materials & methods : We chose children diagnosed as Alport syndrome in renal biopsy during 20 years(from 1980, Jan. until 1999, Dec.) who could receive follow up studies in tile department of pediatrics. They were divided into two groups by comparing renal function at the time of diagnosis and at current status. We compared several clinical aspects in them, and applied nonparametric test for statistical analysis. Results : The sex ratio(male:female) of 24 children was 3:1. The most common clinical symptom presented at their first visit was gross hematuria. Among those 24 children, 11 cases($46\%$) of progressing into chronic renal failure(Group II) were observed. Hypertension, proteinuria and edema were seen much frequently in group II. The level of serum protein, albumin, and creatinine clearance were decreased while BUN, creatinine were relatively increased. All the results were statistically significant. Conclusion Clinically significant risk factors related to prognosis in Alport syndrome were the presence of hypertension, edema, and proteinuria at the time of diagnosis. Also, the level of serum protein, albumin, BUN, creatinine, and glomerular filtration rate were proved to be important factors in predicting prognosis. We believe that studies on these possible risk factors would be of great help in treating and predicting prognosis of children suffering with Alport syndrome. (J Korean Soc Pediatr Nephrol 2001;5 : 164-75)