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Medullary Cystic Disease of the Kidney: Its Occurrence in Two Siblings

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Medullary Cystic Disease of the Kidney: Its Occurrence in Two Siblings Postgrad. med. J. (October 1968) 44, 792-798. Postgrad Med J: first published as 10.1136/pgmj.44.516.792 on 1 October 1968. Downloaded from Medullary cystic disease of the kidney: its occurrence in two siblings SATYA PAUL HANDA* ROBERT TENNANT M.B. M.D. The Hartford Hospital, Hartford, Connecticut Summary Necropsy findings reveal gross or microscopic Two cases of medullary cystic disease of the cysts in the medullary region of the kidney. At kidney in two siblings are presented. In both present there is an ample evidence that medullary siblings there was an insidious onset of azotaemia cystic disease of the kidney and familial juvenile and anaemia at an early age. The urinalyses were nephronophthisis represent one and the same dis- normal except for a trace of proteinuria and order (Mongeau & Worthen, 1967; Strauss & persistent low specific gravity. The kidneys were Sommers, 1967). small by radiological studies and this was proved The occurrence of medullary cystic disease in at necropsy. The gross microscopic appearances two siblings prompted the present report. of the kidneys were consistent with medullary cystic disease. The literature on this subject and Case reports current views on the similarities between familial Protected by copyright. juvenile nephronophthisis and this condition are Case 1 discussed. R.B., a 20-year-old white male, was admitted to Hartford Hospital for the first time because of Introduction progressive weakness, headache and epigastric Medullary cystic disease of the kidney, a pro- pain associated with vomiting. gressive renal disorder occuring in children and The patient had had enuresis until the age of young adults, first described by Smith & Graham 7 and nocturia during his entire life. At the age (1945), was reviewed by Strauss in 1962. To date of 13, he experienced increased thirst, polyuria over forty cases of the entity have been reported and fatiguability. A year later daily urine out- in the world literature (Goldman et al., 1966; puts were in the range of 8-10 litres; however, no Herdman, Good & Vernier, 1967). The condition craving for salt was noted. Subsequently he be- is characterized by the insidious onset of uraemia, gan to complain of headache and muscle cramps. anaemia and other features of progressive renal When he was evaluated in 1959 (at the age of 15), disease, but without symptoms of urinary tract he was found to have a blood pressure of 170/ http://pmj.bmj.com/ involvement. On post-mortem examination, the 110 mmHg, congenital ichthyosis and mild kidneys are contracted and scarred, and show azotemia. Intravenous pyelogram revealed small extensive cyst formation in the medulla or in the kidneys. Over the next 4 years, his renal func- region of the cortico-medullary junction. tion showed a progressive decline (Table 1). Medullary cystic disease of the kidney is He was admitted to another hospital in July thought not to be related to sponge kidney, a 1963 with symptoms of anorexia, weight loss and condition characterized by multiple small cysts itching. The urine output and intensity of thirst on September 26, 2021 by guest. in the medullary region, with little or no evidence had gradually decreased. of impairment of renal functions. Physical examination revealed a pale, muscular The disorder called familial juvenile nephron- boy with ichthyotic and pigmented skin. The ophthisis was described by Fanconi et al. in 1951. pulse was 120, BP 154/100mmHg. The thyroid Since then forty cases have been reported. Clinic- was diffusely enlarged and a slight degree of lid- ally these patients present with features similar lag was present. The heart was enlarged with a to those of medullary cystic disease of the kidney. thrusting apex beat and a presystolic gallop. *Present address: Renal Disease Section, Department of Lungs were clear. Medicine, V.A. Hospital, Washington, D.C. Investigations. PCV 27 5%, WBC 7700/mm3, Reprint requests to Dr Tennant, Hartford Hospital, with a normal differential. Urinalysis; specific- Hartford, Connecticut. gravity, 1 004; 2+ protein and unremarkable sedi- Medullary cystic disease of the kidney 793 Postgrad Med J: first published as 10.1136/pgmj.44.516.792 on 1 October 1968. Downloaded from ment. Radiological survey of skeletal system was clinical impression was that of renal disease consistent with renal osteodystrophy. Urine rather than adrenal and studies of adrenal func- culture from bladder and both ureters was tion were not done. Despite control of uraemia negative. Cystoscopic examination was unre- by dialysis, the patient developed tinnitus, deaf- markable. ness and Pseudomonas septicemia and he expired The patient was treated with large quantities of on 18 January 1964. salt and fluid intravenously. There was significant Necropsy. The skin showed a brown scaly improvement in his clinical state. The blood urea appearance due to ichthyosis. Fourth toe on each nitrogen (BUN) fell from 230 to 100 mg/ 100 ml. foot was small. Heart weighed 520 g, and showed He was discharged to be followed by his private marked left ventricular hypertrophy. Lungs physician. showed basal congestion. The vertebral marrow In September 1964 he began to complain of was pale. Adrenals and parathyroids were grossly epigastric pain with nausea and was admitted to unremarkable. Thyroid was enlarged. Each Hartford Hospital on 22 November 1964 because kidney weighed 100 g and measured 7 5 x 4 cm. of vomiting. The capsules could be stripped easily, revealing On examination he was dehydrated and sallow. smooth cortical surfaces. On cut section, the Pulse, 84; BP 184/80 mmHg. The remaining phys- parenchyma was firm in consistency; the cortices ical examination was similar to that of 1963, but were atrophic. The medullary areas, especially the fundi showed changes of azotemia and hyper- in the pyramids, showed numerous smooth-walled tension. Hb 82g/lOOml, BUN 295mg/lOOml cysts which varied in size from 0X2 to 1 cm in and serum creatinine 20-7 mg/ 100 ml. The barium diameter (Fig. la). The pelves and calyces were meal showed no abnormality. unremarkable. The ureters were normal. Both The hospital course was that of chronic renal arteries were normal. azotemia. Large volumes of saline infusions were Histology: Sections of the kidney showed Protected by copyright. given to replace urinary wastage of sodium, rang- ing 84-110mEq/l. In view of the small size of the kidneys with progressive azotaemia, the http://pmj.bmj.com/ 1111114..... on September 26, 2021 by guest. FIG. 1. (a) Case 1. Kidney showing diffuse scarring of FIG. 2. (a) Case 1. (b) Case 2. Shows wall of medullary cortex with numerous medullary cysts. (b) Case 2. cysts with flattened epithelial lining and increase in Kidney section showing medullary cysts. H & E, x 6. fibrous tissue between collecting tubules. H & E, x 60. 794 Satya Paul Handa and Robert Tennant Postgrad Med J: first published as 10.1136/pgmj.44.516.792 on 1 October 1968. Downloaded from numerous cysts in the medulla. These were lined gravity 1-016, 3 + protein, sediment unremarkable. by low cuboidal epithelium (Fig. 2a). The adja- BUN 187mg/100ml. Subsequently she was cent collecting tubules were compressed and dis- admitted to another hospital with an acute respir- torted. There was a diffuse increase in the inter- atory infection, when she was found to be chron- stitial fibrous tissue in the medulla. The cortex ically ill with a BP 140/90 mmHg. Pulse 104/min. was markedly narrowed and was replaced by The kidneys were seen to be small on flat plate diffuse interstitial fibrous tissue. The convoluted of the abdomen, but could not be visualized in tubules were atrophic and many were encircled the IVP. There was an overall decreased density by bands of collagenized tissue. The glomeruli of the bones. She was put on a low protein diet, showed fibrous thickening of Bowman's capsule calcium lactate and amphogel. With this regimen, and many glomeruli were hyalinized (Fig. 3a). the azotaemia improved and BUN fell to 69 mg/ Many capsular spaces were dilated. There was a 100 ml in 2 months. Other laboratory data scant diffuse infiltration of lymphocytes in the presented in Table 1. Her anaemia was attributed interstitial tissue. Protein casts were present in to azotemia due to hypoplastic kidneys. The many of the tubules. There were also several clinical course remained stable and she was dis- lakes of proteinaceous material present in the charged. interstitium of the cortex (Fig. 4a). This material In November 1955, at the age of 14L she took a strongly positive PAS stain. There was no entered New Britain General Hospital complain- evidence of acute inflammatory reaction present. ing of vomiting, diarrhoea and severe anaemia. Her skin was scaly and pigmented. Pulse 120, Case 2 BP 110/190mmHg. She appeared dehydrated. In J.B., sister of R.B., was first seen in August the hospital she suffered recurrent convulsive 1953, at the age of 12 for the investigation of seizures and died a week after admission. anaemia. Hb 6-7 ml. g /100 Urinalysis; specific Protected by copyright. - ~~~~~~~~~~~~~~%%,,V 03-A (U .11|-~~ http://pmj.bmj.com/ ., | ................................... on September 26, 2021 by guest. ..... ... FIG. 4. (a) Case 1. (b) Case 2. Interstitial fibrosis of FIG. 3. (a) Case 1. (b) Case 2. Diffuse interstitial fibrosis cortex with proteinacious material deposited in intersti- with atrophy of tubules and fibrous thicking of glom- tium. Slight diffuse lymphocytic infiltration of stroma. erular capsules present in both cases. H & E, x 60. H & E, x 60. Medullary cystic disease of the kidney 795 Postgrad Med J: first published as 10.1136/pgmj.44.516.792 on 1 October 1968. Downloaded from Necropsy. The body was that of a small white multiple cysts present, predominantly in the girl measuring 41 ft in length and weighing 85 lb.
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