Medullary sponge kidney is a relatively common, congenital lesion of the renal medulla, which was first described by Lenarduzzi in 1939. Many urologists have been interested in its unknown pathogenesis and complications, such as nephrolithiasis and infection. We report 5 cases of medullary sponge kidney, diagnosed by excretory urography and the literature has been reviewed briefly.
Medullary Sponge Kidney* ; Nephrolithiasis ; Urography

Renal tubular acidosis is a clinical state of systemic hyperchloremic acidosis resulting from impaired urine acidification. Medullary sponge kidney is a renal parenchymal malformation characterized by cystic dilatation of the collecting ducts. Although medullary sponge kidney is a congenital disease, it is rarely identified in childhood and is usually discovered in adulthood. Medullary sponge kidney patients may have defects in urinary acidification and concentration mechanism. We experienced a case of distal renal tubular acidosis associated with medullary sponge kidney. So, we report a case of distal renal tubular acidosis associated with medullary sponge kidney with a brief review of the related literature.
Acidosis ; Acidosis, Renal Tubular* ; Dilatation ; Humans ; Medullary Sponge Kidney*

A woman aged 31 had recurrent urinary tract infection with bloody urine. A series image of medullary sponge kidney presented by intravenous urography (IVU) was detected dynamically by retrograde pyelography (RP). Other than ultrasonography and IVU, RP is also a reliable method to detect medullary sponge kidney.
Female ; Humans ; Medullary Sponge Kidney ; Ultrasonography ; Urinary Tract Infections ; Urography

Medullary sponge kidney is uncommon disease and rare in children. It is characterized by localized dilatation of collecting ducts in renal pyramids. The diagnosis of medullary sponge ki-dney depends mainly upon intravenous and retrograde pyelography. This paper presented a case of medullary sponge kidney found in a 9-year-old boy during the study about enuresis, and a brief review of literature was made.
Child ; Diagnosis ; Dilatation ; Enuresis ; Humans ; Male ; Medullary Sponge Kidney* ; Porifera ; Urography

Medullary sponge Kidney is a clinical disease entity, which became apparent only when IVPs are done and may be uncovered when hematuria, urinary infection, nephrocalcinosis or frank stones come under investigation. The treatment is limited to the complications, chiefly infection and calculi. We have experienced 8 cases of medullary sponge kidney from 1964 to 1976, and following data were obtained. 1) Clinically, we observed hypertension in 3, flank pain in 4, gross hematuria in 4, renal calculi or calcification in 6 cases, and positive family history or congenital hemihypertrophy were observed in none. 2) In laboratory findings, anemia was present in 1, azotemia in none, hematuria in 5, proteinuria in 3 and urinary tract infection in 4 cases.
Anemia ; Azotemia ; Calculi ; Flank Pain ; Hematuria ; Humans ; Hypertension ; Kidney Calculi ; Medullary Sponge Kidney* ; Nephrocalcinosis ; Proteinuria ; Urinary Tract Infections

PURPOSE: The medullary sponge kidney(MSK) is a congenital anomaly of the renal medulla characterized by fusiform and cystic dilatation of the collecting tubules confined to the renal pyramids. The aim of this study is to evaluate the metabolic risk factors and effect of extracorporeal shock wave lithotripsy(ESWL) and complications in an MSK with nephrocalcinosis. MATERIALS AND METHODS: We compared stone metabolic studies between 45 patients with MSK and 279 non-MSK patients. We evaluated the effect of ESWL for MSK. Group A patients received ESWL and follow-up within 3 months and Group B patients had a period of cessation for more than 6 months. The frequency of complications between group A and group B patients was compared. RESULTS: There were no statistically differences between the MSK group and non-MSK group of patients in the stone metabolic studies. Among the 45 patients with MSK, 26(58%) had one or several of the following metabolic disorders: hypocitraturia(36.7%), hypercalciuria(18.3%), hyperoxaluria(16.3%), hyperuricosuria(16.3%), low urine volume(12.4%). The percentage of patients that experienced more than 75% of a reduction of stone burden on plain films was 48.8%, 25?75% of the reduction was 35.6%, and less than 25% of the reduction was 15.6%. The most common complication was renal colic(17.7%). Renal colic and stone re-growth was shown to have a more significant association with group B patients as compared to group A patients. CONCLUSIONS: ESWL reduced the stone burden more than 75% in 48.8% of MSK patients with nephrocalcinosis, and prevented flank pain, and obstructive uropathy. Therefore, we plan to develop treatments that are more effective.
Dilatation ; Flank Pain ; Follow-Up Studies ; Humans ; Lithotripsy* ; Medullary Sponge Kidney* ; Nephrocalcinosis* ; Porifera ; Renal Colic ; Risk Factors* ; Shock*

Acidosis, Renal Tubular ; complications ; diagnosis ; Child ; Diagnostic Errors ; Female ; Humans ; Medullary Sponge Kidney ; complications ; diagnosis ; Rickets ; diagnosis

PURPOSE: Medullary sponge kidney (MSK) is a rare congenital disease characterized by diffuse ectasia or dilatation of precalyceal collecting tubules. MSK incidence and prevalence in the general population is uncertain and only a few patients are reported especially in the pediatric age. There has been increasing reports of patients with MSK who have other malformative disorders. Also several case reports concerning about etiological association of some genes. METHODS: Collaborative study through nation-wide survey was done to investigate the incidence and etiological association of some genes such as GDNF gene, ATP6V1B1, ATP6V0A4 gene in developing MSK in Korean children. RESULTS: Four cases of MSK who have various other malformative disorders were collected. There are no mutations of GDNF gene, ATP6V1B1, ATP6V0A4 gene in all patients. CONCLUSION: MSK is one of the very rare diseases in pediatric age. The etiological association of GDNF gene , ATP6V1B1, ATP6V0A4 gene in developing MSK in Korean children is not proved.
Child ; Dilatation ; Dilatation, Pathologic ; Glial Cell Line-Derived Neurotrophic Factor ; Humans ; Incidence ; Medullary Sponge Kidney ; Prevalence ; Rare Diseases

BACKGROUND: Diagnosis of RTA (renal tubular acidosis) is not easy due to its nonspecific and various manifestations. To find out the clues to diagnosis, we investigated initial manifestations, laboratory features and clinical course of RTA patients. METHODS: Thirty-seven patients with RTA type I or II, whose follow-up period was over 6 months were included in the study. We reviewed their medical records retrospectively. RESULTS: Male to female ratio was 5:32 and the average age at the time of diagnosis was 38.7 (15~60). Twenty-five patients had RTA type I, nine had type II, and three had both. The average follow-up period was 6.4 years. Initial manifestations were asthenia (54%), nausea (46%), urinary stone (24%), paresthesia (24%), lower extremity weakness (22%), and paralysis (11%). Underlying diseases at the time of diagnosis include Sjogren's syndrome (14%), SLE (8%), drug-induced nephropathy (11%), diabetic nephropathy (5.4%), Sjogren's syndrome combined with SLE (2.7%), and medullary sponge kidney (2.7%). Laboratory tests revealed acidosis with hypokalemia (59%), acidosis without hypokalemia (14%), and hypokalemia without acidosis (24%). The level of total CO2 was 22 mmol/L or lower in 27 patients. The Na:Cl ratio on the average was 1:1.26 and for 33 patients below 1:1.35. Renal function deteriorated in 8 patients and 7 of them had underlying diseases. Urinary stone developed in 2 patients with RTA type I. CONCLUSION: When patients with nonspecific symptoms show decreased levels of serum total CO2, potassium, or Na:Cl ratio, RTA should always be considered.
Acidosis ; Acidosis, Renal Tubular* ; Asthenia ; Diabetic Nephropathies ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Hypokalemia ; Lower Extremity ; Male ; Medical Records ; Medullary Sponge Kidney ; Nausea ; Paralysis ; Paresthesia ; Potassium ; Retrospective Studies ; Sjogren's Syndrome ; Urinary Calculi